Canonical Allele Identifier: CA373278751

Gene: GALT

Linked Data

• MyVariant Identifiers: chr9:g.34647215T>A (hg19) ; chr9:g.34647218T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34647218T>A , CM000671.2:g.34647218T>A	GRCh38
NC_000009.11:g.34647215T>A , CM000671.1:g.34647215T>A	GRCh37
NC_000009.10:g.34637215T>A	NCBI36
NG_009029.1:g.5581T>A
NG_028966.1:g.34T>A
NG_009029.2:g.5630T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.212T>A	ENSP00000509954.1:p.Leu71His
ENST00000378842.8:c.212T>A MANE Select	ENSP00000368119.4:p.Leu71His
ENST00000378842.7:c.212T>A	ENSP00000368119.3:p.Leu71His
ENST00000450095.6:c.10T>A	ENSP00000401956.2:p.Ser4Thr
ENST00000465543.6:n.551T>A
ENST00000468099.2:n.252T>A
ENST00000472111.5:n.253T>A
ENST00000473506.6:c.212T>A	ENSP00000432839.2:p.Leu71His
ENST00000473529.5:n.259T>A
ENST00000485531.1:n.205T>A
ENST00000487381.5:n.238T>A
ENST00000489643.6:n.242T>A
ENST00000554085.5:c.212T>A	ENSP00000450419.1:p.Leu71His
ENST00000554139.5:n.265T>A
ENST00000554330.5:n.209T>A
ENST00000554550.5:c.212T>A	ENSP00000451435.1:p.Leu71His
ENST00000554638.5:n.236T>A
ENST00000554897.5:c.212T>A	ENSP00000450942.1:p.Leu71His
ENST00000554944.5:n.242T>A
ENST00000555020.5:n.242T>A
ENST00000555086.5:n.216T>A
ENST00000555214.5:n.221T>A
ENST00000556157.1:n.319T>A
ENST00000556244.1:c.96T>A
ENST00000556278.1:c.212T>A	ENSP00000451792.1:p.Leu71His
ENST00000556403.5:n.225T>A
ENST00000556494.5:n.244T>A
ENST00000557541.5:n.405T>A
ENST00000557706.5:n.326T>A
NM_000155.3:c.212T>A	NP_000146.2:p.Leu71His
NM_001258332.1:c.10T>A	NP_001245261.1:p.Ser4Thr
NM_000155.4:c.212T>A MANE Select	NP_000146.2:p.Leu71His
NM_001258332.2:c.10T>A	NP_001245261.1:p.Ser4Thr