Canonical Allele Identifier: CA402995038

Gene: GAMT

Linked Data

• MyVariant Identifiers: chr19:g.1399143T>A (hg19) ; chr19:g.1399144T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.1399144T>A , CM000681.2:g.1399144T>A	GRCh38
NC_000019.9:g.1399143T>A , CM000681.1:g.1399143T>A	GRCh37
NC_000019.8:g.1350143T>A	NCBI36
NG_009785.1:g.7410A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252288.8:c.443A>T MANE Select	ENSP00000252288.1:p.Gln148Leu
ENST00000447102.8:c.443A>T	ENSP00000403536.2:p.Gln148Leu
ENST00000591788.3:c.126A>T
ENST00000640164.1:n.276A>T
ENST00000640762.1:c.374A>T	ENSP00000492031.1:p.Gln125Leu
ENST00000252288.6:c.443A>T	ENSP00000252288.1:p.Gln148Leu
ENST00000447102.7:c.443A>T	ENSP00000403536.2:p.Gln148Leu
ENST00000591788.2:c.128A>T	ENSP00000466341.2:p.Gln43Leu
NM_000156.5:c.443A>T	NP_000147.1:p.Gln148Leu
NM_138924.2:c.443A>T	NP_620279.1:p.Gln148Leu
NM_000156.6:c.443A>T MANE Select	NP_000147.1:p.Gln148Leu
NM_138924.3:c.443A>T	NP_620279.1:p.Gln148Leu