Canonical Allele Identifier: CA992512204
Gene: GAMT HGNC NCBI

Linked Data

dbSNP Id: rs1600160802
gnomAD v3: 19-1401519-C-T
gnomAD v4: 19-1401519-C-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1401519C>T , CM000681.2:g.1401519C>T GRCh38
NC_000019.9:g.1401518C>T , CM000681.1:g.1401518C>T GRCh37
NC_000019.8:g.1352518C>T NCBI36
NG_009785.1:g.5035G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000252288.8:c.-43G>A MANE Select ENSP00000252288.1:n.-43G>A
ENST00000447102.8:c.-43G>A ENSP00000403536.2:n.-43G>A
ENST00000252288.6:c.-43G>A ENSP00000252288.1:n.-43G>A
ENST00000447102.7:c.-43G>A ENSP00000403536.2:n.-43G>A
NM_000156.5:c.-43G>A NP_000147.1:n.-43G>A
NM_138924.2:c.-43G>A NP_620279.1:n.-43G>A
NM_000156.6:c.-43G>A MANE Select NP_000147.1:n.-43G>A
NM_138924.3:c.-43G>A NP_620279.1:n.-43G>A
Search 100 bp 5'
Search 100 bp 3'