Canonical Allele Identifier: CA504895184

Gene: GAMT

Linked Data

• gnomAD v4: 19-1399009-C-G
• MyVariant Identifiers: chr19:g.1399008C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1399009C>G , CM000681.2:g.1399009C>G	GRCh38
NC_000019.9:g.1399008C>G , CM000681.1:g.1399008C>G	GRCh37
NC_000019.8:g.1350008C>G	NCBI36
NG_009785.1:g.7545G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000252288.8:c.477G>C MANE Select	ENSP00000252288.1:p.Leu159=
ENST00000447102.8:c.477G>C	ENSP00000403536.2:p.Leu159=
ENST00000591788.3:c.160G>C
ENST00000640164.1:n.310G>C
ENST00000640762.1:c.408G>C	ENSP00000492031.1:p.Leu136=
ENST00000252288.6:c.477G>C	ENSP00000252288.1:p.Leu159=
ENST00000447102.7:c.477G>C	ENSP00000403536.2:p.Leu159=
ENST00000591788.2:c.162G>C	ENSP00000466341.2:p.Leu54=
NM_000156.5:c.477G>C	NP_000147.1:p.Leu159=
NM_138924.2:c.477G>C	NP_620279.1:p.Leu159=
NM_000156.6:c.477G>C MANE Select	NP_000147.1:p.Leu159=
NM_138924.3:c.477G>C	NP_620279.1:p.Leu159=