Canonical Allele Identifier: CA304067345
Gene: GAMT HGNC NCBI

Linked Data

ClinVar Variation Id: 696471
dbSNP Id: rs960874258
gnomAD v2: 19-1401422-G-A
gnomAD v3: 19-1401423-G-A
gnomAD v4: 19-1401423-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.1401423G>A , CM000681.2:g.1401423G>A GRCh38
NC_000019.9:g.1401422G>A , CM000681.1:g.1401422G>A GRCh37
NC_000019.8:g.1352422G>A NCBI36
NG_009785.1:g.5131C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000252288.8:c.54C>T MANE Select ENSP00000252288.1:p.Pro18=
ENST00000447102.8:c.54C>T ENSP00000403536.2:p.Pro18=
ENST00000640762.1:c.54C>T ENSP00000492031.1:p.Pro18=
ENST00000252288.6:c.54C>T ENSP00000252288.1:p.Pro18=
ENST00000447102.7:c.54C>T ENSP00000403536.2:p.Pro18=
NM_000156.5:c.54C>T NP_000147.1:p.Pro18=
NM_138924.2:c.54C>T NP_620279.1:p.Pro18=
NM_000156.6:c.54C>T MANE Select NP_000147.1:p.Pro18=
NM_138924.3:c.54C>T NP_620279.1:p.Pro18=