Canonical Allele Identifier: CA2582641893
Gene: GAMT HGNC NCBI

Linked Data

ClinVar Variation Id: 2821427
ClinVar RCV Id: RCV003747116
gnomAD v4: 19-1401284-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1401284G>A , CM000681.2:g.1401284G>A GRCh38
NC_000019.9:g.1401283G>A , CM000681.1:g.1401283G>A GRCh37
NC_000019.8:g.1352283G>A NCBI36
NG_009785.1:g.5270C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000252288.8:c.181+12C>T MANE Select ENSP00000252288.1:n.181+12C>T
ENST00000447102.8:c.181+12C>T ENSP00000403536.2:n.181+12C>T
ENST00000640762.1:c.112+81C>T ENSP00000492031.1:n.112+81C>T
ENST00000252288.6:c.181+12C>T ENSP00000252288.1:n.181+12C>T
ENST00000447102.7:c.181+12C>T ENSP00000403536.2:n.181+12C>T
NM_000156.5:c.181+12C>T NP_000147.1:n.181+12C>T
NM_138924.2:c.181+12C>T NP_620279.1:n.181+12C>T
NM_000156.6:c.181+12C>T MANE Select NP_000147.1:n.181+12C>T
NM_138924.3:c.181+12C>T NP_620279.1:n.181+12C>T
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