Canonical Allele Identifier: CA504730072

Gene: GAMT

Linked Data

• dbSNP Id: rs1178280097
• MyVariant Identifiers: chr19:g.1399139G>A (hg19) ; chr19:g.1399140G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1399140G>A , CM000681.2:g.1399140G>A	GRCh38
NC_000019.9:g.1399139G>A , CM000681.1:g.1399139G>A	GRCh37
NC_000019.8:g.1350139G>A	NCBI36
NG_009785.1:g.7414C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252288.8:c.447C>T MANE Select	ENSP00000252288.1:p.Phe149=
ENST00000447102.8:c.447C>T	ENSP00000403536.2:p.Phe149=
ENST00000591788.3:c.130C>T
ENST00000640164.1:n.280C>T
ENST00000640762.1:c.378C>T	ENSP00000492031.1:p.Phe126=
ENST00000252288.6:c.447C>T	ENSP00000252288.1:p.Phe149=
ENST00000447102.7:c.447C>T	ENSP00000403536.2:p.Phe149=
ENST00000591788.2:c.132C>T	ENSP00000466341.2:p.Phe44=
NM_000156.5:c.447C>T	NP_000147.1:p.Phe149=
NM_138924.2:c.447C>T	NP_620279.1:p.Phe149=
NM_000156.6:c.447C>T MANE Select	NP_000147.1:p.Phe149=
NM_138924.3:c.447C>T	NP_620279.1:p.Phe149=