Canonical Allele Identifier: CA9043654
Gene: GAMT HGNC NCBI

Linked Data

dbSNP Id: rs754901390
ExAC: 19:1399100 G / T
gnomAD v2: 19-1399100-G-T
gnomAD v3: 19-1399101-G-T
gnomAD v4: 19-1399101-G-T
MyVariant Identifiers: chr19:g.1399100G>T (hg19) chr19:g.1399100_1399101delinsTC (hg19) chr19:g.1399101G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1399101G>T , CM000681.2:g.1399101G>T GRCh38
NC_000019.9:g.1399100G>T , CM000681.1:g.1399100G>T GRCh37
NC_000019.8:g.1350100G>T NCBI36
NG_009785.1:g.7453C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000252288.8:c.459+27C>A MANE Select ENSP00000252288.1:n.459+27C>A
ENST00000447102.8:c.459+27C>A ENSP00000403536.2:n.459+27C>A
ENST00000591788.3:c.142+27C>A
ENST00000640164.1:n.292+27C>A
ENST00000640762.1:c.390+27C>A ENSP00000492031.1:n.390+27C>A
ENST00000252288.6:c.459+27C>A ENSP00000252288.1:n.459+27C>A
ENST00000447102.7:c.459+27C>A ENSP00000403536.2:n.459+27C>A
ENST00000591788.2:c.144+27C>A ENSP00000466341.2:n.144+27C>A
NM_000156.5:c.459+27C>A NP_000147.1:n.459+27C>A
NM_138924.2:c.459+27C>A NP_620279.1:n.459+27C>A
NM_000156.6:c.459+27C>A MANE Select NP_000147.1:n.459+27C>A
NM_138924.3:c.459+27C>A NP_620279.1:n.459+27C>A
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