Canonical Allele Identifier: CA402995037

Gene: GAMT

Linked Data

• MyVariant Identifiers: chr19:g.1399142C>G (hg19) ; chr19:g.1399143C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1399143C>G , CM000681.2:g.1399143C>G	GRCh38
NC_000019.9:g.1399142C>G , CM000681.1:g.1399142C>G	GRCh37
NC_000019.8:g.1350142C>G	NCBI36
NG_009785.1:g.7411G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252288.8:c.444G>C MANE Select	ENSP00000252288.1:p.Gln148His
ENST00000447102.8:c.444G>C	ENSP00000403536.2:p.Gln148His
ENST00000591788.3:c.127G>C
ENST00000640164.1:n.277G>C
ENST00000640762.1:c.375G>C	ENSP00000492031.1:p.Gln125His
ENST00000252288.6:c.444G>C	ENSP00000252288.1:p.Gln148His
ENST00000447102.7:c.444G>C	ENSP00000403536.2:p.Gln148His
ENST00000591788.2:c.129G>C	ENSP00000466341.2:p.Gln43His
NM_000156.5:c.444G>C	NP_000147.1:p.Gln148His
NM_138924.2:c.444G>C	NP_620279.1:p.Gln148His
NM_000156.6:c.444G>C MANE Select	NP_000147.1:p.Gln148His
NM_138924.3:c.444G>C	NP_620279.1:p.Gln148His