Canonical Allele Identifier: CA314808

Gene: GAMT

Linked Data

• ClinVar Variation Id: 205582
• ClinVar RCV Id: RCV000711734 ; RCV001124347 ; RCV000807491 ; RCV002314717
• dbSNP Id: rs141066224
• ExAC: 19:1397494 G / A
• gnomAD v2: 19-1397494-G-A
• gnomAD v3: 19-1397495-G-A
• gnomAD v4: 19-1397495-G-A
• MyVariant Identifiers: chr19:g.1397494G>A (hg19) ; chr19:g.1397495G>A (hg38)
• ERepo: CA314808/MONDO:0012999/026

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1397495G>A , CM000681.2:g.1397495G>A	GRCh38
NC_000019.9:g.1397494G>A , CM000681.1:g.1397494G>A	GRCh37
NC_000019.8:g.1348494G>A	NCBI36
NG_008283.1:g.18612G>A
NG_009785.1:g.9059C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252288.8:c.575C>T MANE Select	ENSP00000252288.1:p.Thr192Met
ENST00000640164.1:n.408C>T
ENST00000640762.1:c.506C>T	ENSP00000492031.1:p.Thr169Met
ENST00000252288.6:c.575C>T	ENSP00000252288.1:p.Thr192Met
NM_000156.5:c.575C>T	NP_000147.1:p.Thr192Met
NM_000156.6:c.575C>T MANE Select	NP_000147.1:p.Thr192Met