Canonical Allele Identifier: CA9043691
Gene: GAMT HGNC NCBI

Linked Data

dbSNP Id: rs199732257
ExAC: 19:1399239 G / A
gnomAD v2: 19-1399239-G-A
gnomAD v3: 19-1399240-G-A
gnomAD v4: 19-1399240-G-A
MyVariant Identifiers: chr19:g.1399239G>A (hg19) chr19:g.1399240G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1399240G>A , CM000681.2:g.1399240G>A GRCh38
NC_000019.9:g.1399239G>A , CM000681.1:g.1399239G>A GRCh37
NC_000019.8:g.1350239G>A NCBI36
NG_009785.1:g.7314C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000252288.8:c.392-45C>T MANE Select ENSP00000252288.1:n.392-45C>T
ENST00000447102.8:c.392-45C>T ENSP00000403536.2:n.392-45C>T
ENST00000591788.3:c.75-45C>T
ENST00000640164.1:n.225-45C>T
ENST00000640762.1:c.323-45C>T ENSP00000492031.1:n.323-45C>T
ENST00000252288.6:c.392-45C>T ENSP00000252288.1:n.392-45C>T
ENST00000447102.7:c.392-45C>T ENSP00000403536.2:n.392-45C>T
ENST00000591788.2:c.77-45C>T ENSP00000466341.2:n.77-45C>T
NM_000156.5:c.392-45C>T NP_000147.1:n.392-45C>T
NM_138924.2:c.392-45C>T NP_620279.1:n.392-45C>T
NM_000156.6:c.392-45C>T MANE Select NP_000147.1:n.392-45C>T
NM_138924.3:c.392-45C>T NP_620279.1:n.392-45C>T
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