Canonical Allele Identifier: CA2317700525
Gene: GAMT HGNC NCBI

Linked Data

dbSNP Id: rs1600160802
gnomAD v4: 19-1401519-C-G
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Genomic Alleles

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

Transcript Alleles

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