Canonical Allele Identifier: CA2317699058
Gene: GAMT HGNC NCBI

Linked Data

ClinVar Variation Id: 2862768
ClinVar RCV Id: RCV003746186
dbSNP Id: rs2082617673
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1399041T>C , CM000681.2:g.1399041T>C GRCh38
NC_000019.9:g.1399040T>C , CM000681.1:g.1399040T>C GRCh37
NC_000019.8:g.1350040T>C NCBI36
NG_009785.1:g.7513A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000252288.8:c.460-15A>G MANE Select ENSP00000252288.1:n.460-15A>G
ENST00000447102.8:c.460-15A>G ENSP00000403536.2:n.460-15A>G
ENST00000591788.3:c.143-15A>G
ENST00000640164.1:n.293-15A>G
ENST00000640762.1:c.391-15A>G ENSP00000492031.1:n.391-15A>G
ENST00000252288.6:c.460-15A>G ENSP00000252288.1:n.460-15A>G
ENST00000447102.7:c.460-15A>G ENSP00000403536.2:n.460-15A>G
ENST00000591788.2:c.145-15A>G ENSP00000466341.2:n.145-15A>G
NM_000156.5:c.460-15A>G NP_000147.1:n.460-15A>G
NM_138924.2:c.460-15A>G NP_620279.1:n.460-15A>G
NM_000156.6:c.460-15A>G MANE Select NP_000147.1:n.460-15A>G
NM_138924.3:c.460-15A>G NP_620279.1:n.460-15A>G
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