Canonical Allele Identifier: CA402995033

Gene: GAMT

Linked Data

• MyVariant Identifiers: chr19:g.1399141A>C (hg19) ; chr19:g.1399142A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1399142A>C , CM000681.2:g.1399142A>C	GRCh38
NC_000019.9:g.1399141A>C , CM000681.1:g.1399141A>C	GRCh37
NC_000019.8:g.1350141A>C	NCBI36
NG_009785.1:g.7412T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252288.8:c.445T>G MANE Select	ENSP00000252288.1:p.Phe149Val
ENST00000447102.8:c.445T>G	ENSP00000403536.2:p.Phe149Val
ENST00000591788.3:c.128T>G
ENST00000640164.1:n.278T>G
ENST00000640762.1:c.376T>G	ENSP00000492031.1:p.Phe126Val
ENST00000252288.6:c.445T>G	ENSP00000252288.1:p.Phe149Val
ENST00000447102.7:c.445T>G	ENSP00000403536.2:p.Phe149Val
ENST00000591788.2:c.130T>G	ENSP00000466341.2:p.Phe44Val
NM_000156.5:c.445T>G	NP_000147.1:p.Phe149Val
NM_138924.2:c.445T>G	NP_620279.1:p.Phe149Val
NM_000156.6:c.445T>G MANE Select	NP_000147.1:p.Phe149Val
NM_138924.3:c.445T>G	NP_620279.1:p.Phe149Val