Canonical Allele Identifier: CA314808
Gene: GAMT HGNC NCBI

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
JSON-LD

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
Search 100 bp 5'
Search 100 bp 3'