Canonical Allele Identifier: CA373282073

Gene: GALT

Linked Data

• MyVariant Identifiers: chr9:g.34648388G>A (hg19) ; chr9:g.34648391G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648391G>A , CM000671.2:g.34648391G>A	GRCh38
NC_000009.11:g.34648388G>A , CM000671.1:g.34648388G>A	GRCh37
NC_000009.10:g.34638388G>A	NCBI36
NG_009029.1:g.6754G>A
NG_028966.1:g.1207G>A
NG_009029.2:g.6803G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*210G>A	ENSP00000509954.1:n.*210G>A
ENST00000378842.8:c.622G>A MANE Select	ENSP00000368119.4:p.Ala208Thr
ENST00000378842.7:c.622G>A	ENSP00000368119.3:p.Ala208Thr
ENST00000450095.6:c.295G>A	ENSP00000401956.2:p.Ala99Thr
ENST00000472111.5:n.878G>A
ENST00000473506.6:c.*210G>A	ENSP00000432839.2:n.*210G>A
ENST00000473529.5:n.781G>A
ENST00000487381.5:n.1007G>A
ENST00000489643.6:n.397G>A
ENST00000554085.5:c.*366G>A	ENSP00000450419.1:n.*366G>A
ENST00000554550.5:c.*242G>A	ENSP00000451435.1:n.*242G>A
ENST00000554638.5:n.1094G>A
ENST00000555020.5:n.778G>A
ENST00000555086.5:n.626G>A
ENST00000555214.5:n.443G>A
ENST00000556244.1:c.609G>A
ENST00000556278.1:c.367G>A	ENSP00000451792.1:p.Ala123Thr
ENST00000556494.5:n.743G>A
ENST00000557706.5:n.1184G>A
NM_000155.3:c.622G>A	NP_000146.2:p.Ala208Thr
NM_001258332.1:c.295G>A	NP_001245261.1:p.Ala99Thr
NM_000155.4:c.622G>A MANE Select	NP_000146.2:p.Ala208Thr
NM_001258332.2:c.295G>A	NP_001245261.1:p.Ala99Thr