Canonical Allele Identifier: CA304067203
Gene: GAMT HGNC NCBI

Linked Data

dbSNP Id: rs1040632364
gnomAD v3: 19-1401239-C-T
gnomAD v4: 19-1401239-C-T
MyVariant Identifiers: chr19:g.1401238C>T (hg19) chr19:g.1401239C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1401239C>T , CM000681.2:g.1401239C>T GRCh38
NC_000019.9:g.1401238C>T , CM000681.1:g.1401238C>T GRCh37
NC_000019.8:g.1352238C>T NCBI36
NG_009785.1:g.5315G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000252288.8:c.181+57G>A MANE Select ENSP00000252288.1:n.181+57G>A
ENST00000447102.8:c.181+57G>A ENSP00000403536.2:n.181+57G>A
ENST00000640762.1:c.112+126G>A ENSP00000492031.1:n.112+126G>A
ENST00000252288.6:c.181+57G>A ENSP00000252288.1:n.181+57G>A
ENST00000447102.7:c.181+57G>A ENSP00000403536.2:n.181+57G>A
NM_000156.5:c.181+57G>A NP_000147.1:n.181+57G>A
NM_138924.2:c.181+57G>A NP_620279.1:n.181+57G>A
NM_000156.6:c.181+57G>A MANE Select NP_000147.1:n.181+57G>A
NM_138924.3:c.181+57G>A NP_620279.1:n.181+57G>A
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