Canonical Allele Identifier: CA373280618

Gene: GALT

Linked Data

• MyVariant Identifiers: chr9:g.34647848C>A (hg19) ; chr9:g.34647851C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34647851C>A , CM000671.2:g.34647851C>A	GRCh38
NC_000009.11:g.34647848C>A , CM000671.1:g.34647848C>A	GRCh37
NC_000009.10:g.34637848C>A	NCBI36
NG_009029.1:g.6214C>A
NG_028966.1:g.667C>A
NG_009029.2:g.6263C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.348C>A	ENSP00000509954.1:p.Thr116=
ENST00000378842.8:c.397C>A MANE Select	ENSP00000368119.4:p.Pro133Thr
ENST00000378842.7:c.397C>A	ENSP00000368119.3:p.Pro133Thr
ENST00000450095.6:c.70C>A	ENSP00000401956.2:p.Pro24Thr
ENST00000465543.6:n.736C>A
ENST00000472111.5:n.653C>A
ENST00000473506.6:c.348C>A	ENSP00000432839.2:p.Thr116=
ENST00000473529.5:n.533C>A
ENST00000485531.1:n.838C>A
ENST00000487381.5:n.782C>A
ENST00000489643.6:n.283-264C>A
ENST00000554085.5:c.*141C>A	ENSP00000450419.1:n.*141C>A
ENST00000554139.5:n.576C>A
ENST00000554550.5:c.*17C>A	ENSP00000451435.1:n.*17C>A
ENST00000554638.5:n.869C>A
ENST00000554897.5:c.*17C>A	ENSP00000450942.1:n.*17C>A
ENST00000554944.5:n.593C>A
ENST00000555020.5:n.553C>A
ENST00000555086.5:n.401C>A
ENST00000555214.5:n.262-197C>A
ENST00000556244.1:c.384C>A
ENST00000556278.1:c.253-264C>A	ENSP00000451792.1:n.253-264C>A
ENST00000556494.5:n.518C>A
ENST00000557541.5:n.541C>A
ENST00000557706.5:n.959C>A
NM_000155.3:c.397C>A	NP_000146.2:p.Pro133Thr
NM_001258332.1:c.70C>A	NP_001245261.1:p.Pro24Thr
NM_000155.4:c.397C>A MANE Select	NP_000146.2:p.Pro133Thr
NM_001258332.2:c.70C>A	NP_001245261.1:p.Pro24Thr