Canonical Allele Identifier: CA291022
Gene: GAMT HGNC NCBI

Linked Data

ClinVar Variation Id: 204598
ClinVar RCV Id: RCV000125196 RCV000356370
dbSNP Id: rs149268921
ExAC: 19:1397347 G / A
gnomAD v2: 19-1397347-G-A
gnomAD v3: 19-1397348-G-A
gnomAD v4: 19-1397348-G-A
MyVariant Identifiers: chr19:g.1397347G>A (hg19) chr19:g.1397348G>A (hg38)
ERepo: CA291022/MONDO:0012999/026
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1397348G>A , CM000681.2:g.1397348G>A GRCh38
NC_000019.9:g.1397347G>A , CM000681.1:g.1397347G>A GRCh37
NC_000019.8:g.1348347G>A NCBI36
NG_008283.1:g.18465G>A
NG_009785.1:g.9206C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000252288.8:c.*11C>T MANE Select ENSP00000252288.1:n.*11C>T
ENST00000640762.1:c.*11C>T ENSP00000492031.1:n.*11C>T
ENST00000252288.6:c.*11C>T ENSP00000252288.1:n.*11C>T
NM_000156.5:c.*11C>T NP_000147.1:n.*11C>T
NM_000156.6:c.*11C>T MANE Select NP_000147.1:n.*11C>T
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