Canonical Allele Identifier: CA373278777

Gene: GALT

Linked Data

• MyVariant Identifiers: chr9:g.34647223C>A (hg19) ; chr9:g.34647226C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34647226C>A , CM000671.2:g.34647226C>A	GRCh38
NC_000009.11:g.34647223C>A , CM000671.1:g.34647223C>A	GRCh37
NC_000009.10:g.34637223C>A	NCBI36
NG_009029.1:g.5589C>A
NG_028966.1:g.42C>A
NG_009029.2:g.5638C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.220C>A	ENSP00000509954.1:p.Leu74Met
ENST00000378842.8:c.220C>A MANE Select	ENSP00000368119.4:p.Leu74Met
ENST00000378842.7:c.220C>A	ENSP00000368119.3:p.Leu74Met
ENST00000450095.6:c.18C>A	ENSP00000401956.2:p.Leu6=
ENST00000465543.6:n.559C>A
ENST00000468099.2:n.260C>A
ENST00000472111.5:n.261C>A
ENST00000473506.6:c.220C>A	ENSP00000432839.2:p.Leu74Met
ENST00000473529.5:n.267C>A
ENST00000485531.1:n.213C>A
ENST00000487381.5:n.246C>A
ENST00000489643.6:n.250C>A
ENST00000554085.5:c.220C>A	ENSP00000450419.1:p.Leu74Met
ENST00000554139.5:n.273C>A
ENST00000554330.5:n.217C>A
ENST00000554550.5:c.220C>A	ENSP00000451435.1:p.Leu74Met
ENST00000554638.5:n.244C>A
ENST00000554897.5:c.220C>A	ENSP00000450942.1:p.Leu74Met
ENST00000554944.5:n.250C>A
ENST00000555020.5:n.250C>A
ENST00000555086.5:n.224C>A
ENST00000555214.5:n.229C>A
ENST00000556157.1:n.327C>A
ENST00000556244.1:c.104C>A
ENST00000556278.1:c.220C>A	ENSP00000451792.1:p.Leu74Met
ENST00000556403.5:n.233C>A
ENST00000556494.5:n.252C>A
ENST00000557541.5:n.413C>A
ENST00000557706.5:n.334C>A
NM_000155.3:c.220C>A	NP_000146.2:p.Leu74Met
NM_001258332.1:c.18C>A	NP_001245261.1:p.Leu6=
NM_000155.4:c.220C>A MANE Select	NP_000146.2:p.Leu74Met
NM_001258332.2:c.18C>A	NP_001245261.1:p.Leu6=