Canonical Allele Identifier: CA645614606
Gene: GAMT HGNC NCBI

Linked Data

COSMIC: COSM5943134 COSM5943135
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1398993dup , CM000681.2:g.1398993dup GRCh38
NC_000019.9:g.1398992dup , CM000681.1:g.1398992dup GRCh37
NC_000019.8:g.1349992dup NCBI36
NG_009785.1:g.7561dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000252288.8:c.493dup MANE Select ENSP00000252288.1:p.Val165GlyfsTer26
ENST00000447102.8:c.493dup ENSP00000403536.2:p.Val165GlyfsTer26
ENST00000591788.3:c.176dup
ENST00000640164.1:n.326dup
ENST00000640762.1:c.424dup ENSP00000492031.1:p.Val142GlyfsTer26
ENST00000252288.6:c.493dup ENSP00000252288.1:p.Val165GlyfsTer26
ENST00000447102.7:c.493dup ENSP00000403536.2:p.Val165GlyfsTer26
ENST00000591788.2:c.178dup ENSP00000466341.2:p.Val60GlyfsTer26
NM_000156.5:c.493dup NP_000147.1:p.Val165GlyfsTer26
NM_138924.2:c.493dup NP_620279.1:p.Val165GlyfsTer26
NM_000156.6:c.493dup MANE Select NP_000147.1:p.Val165GlyfsTer26
NM_138924.3:c.493dup NP_620279.1:p.Val165GlyfsTer26
Search 100 bp 5'
Search 100 bp 3'