Canonical Allele Identifier: CA402994963

Gene: GAMT

Linked Data

• gnomAD v4: 19-1399136-A-C
• MyVariant Identifiers: chr19:g.1399135A>C (hg19) ; chr19:g.1399136A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1399136A>C , CM000681.2:g.1399136A>C	GRCh38
NC_000019.9:g.1399135A>C , CM000681.1:g.1399135A>C	GRCh37
NC_000019.8:g.1350135A>C	NCBI36
NG_009785.1:g.7418T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252288.8:c.451T>G MANE Select	ENSP00000252288.1:p.Phe151Val
ENST00000447102.8:c.451T>G	ENSP00000403536.2:p.Phe151Val
ENST00000591788.3:c.134T>G
ENST00000640164.1:n.284T>G
ENST00000640762.1:c.382T>G	ENSP00000492031.1:p.Phe128Val
ENST00000252288.6:c.451T>G	ENSP00000252288.1:p.Phe151Val
ENST00000447102.7:c.451T>G	ENSP00000403536.2:p.Phe151Val
ENST00000591788.2:c.136T>G	ENSP00000466341.2:p.Phe46Val
NM_000156.5:c.451T>G	NP_000147.1:p.Phe151Val
NM_138924.2:c.451T>G	NP_620279.1:p.Phe151Val
NM_000156.6:c.451T>G MANE Select	NP_000147.1:p.Phe151Val
NM_138924.3:c.451T>G	NP_620279.1:p.Phe151Val