Canonical Allele Identifier: CA6077092
Gene: SLC22A12 HGNC NCBI

Linked Data

dbSNP Id: rs58174038
ExAC: 11:64360355 G / A
gnomAD v2: 11-64360355-G-A
gnomAD v3: 11-64592883-G-A
gnomAD v4: 11-64592883-G-A
MyVariant Identifiers: chr11:g.64360355G>A (hg19) chr11:g.64592883G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64592883G>A , CM000673.2:g.64592883G>A GRCh38
NC_000011.9:g.64360355G>A , CM000673.1:g.64360355G>A GRCh37
NC_000011.8:g.64116931G>A NCBI36
NG_008110.1:g.7074G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000377574.6:c.506+1G>A MANE Select ENSP00000366797.1:n.506+1G>A
ENST00000336464.7:c.506+1G>A ENSP00000336836.7:n.506+1G>A
ENST00000377567.6:c.506+1G>A ENSP00000366790.2:n.506+1G>A
ENST00000377572.5:c.506+1G>A ENSP00000366795.1:n.506+1G>A
ENST00000377574.5:c.506+1G>A ENSP00000366797.1:n.506+1G>A
ENST00000473690.5:c.-3+1G>A ENSP00000438437.1:n.-3+1G>A
NM_001276326.1:c.506+1G>A NP_001263255.1:n.506+1G>A
NM_001276327.1:c.506+1G>A NP_001263256.1:n.506+1G>A
NM_144585.3:c.506+1G>A NP_653186.2:n.506+1G>A
NM_153378.2:c.-3+1G>A NP_700357.1:n.-3+1G>A
XM_006718430.2:c.506+1G>A XP_006718493.1:n.506+1G>A
XM_006718431.2:c.401+1G>A XP_006718494.1:n.401+1G>A
XM_006718430.4:c.506+1G>A XP_006718493.1:n.506+1G>A
XM_006718431.4:c.401+1G>A XP_006718494.1:n.401+1G>A
NM_144585.4:c.506+1G>A MANE Select NP_653186.2:n.506+1G>A
NM_001276326.2:c.506+1G>A NP_001263255.1:n.506+1G>A
NM_153378.3:c.-3+1G>A NP_700357.1:n.-3+1G>A
NM_001276327.2:c.506+1G>A NP_001263256.1:n.506+1G>A
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