Canonical Allele Identifier: CA373282078

Gene: GALT

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*210G>C	ENSP00000509954.1:n.*210G>C
ENST00000378842.8:c.622G>C MANE Select	ENSP00000368119.4:p.Ala208Pro
ENST00000378842.7:c.622G>C	ENSP00000368119.3:p.Ala208Pro
ENST00000450095.6:c.295G>C	ENSP00000401956.2:p.Ala99Pro
ENST00000472111.5:n.878G>C
ENST00000473506.6:c.*210G>C	ENSP00000432839.2:n.*210G>C
ENST00000473529.5:n.781G>C
ENST00000487381.5:n.1007G>C
ENST00000489643.6:n.397G>C
ENST00000554085.5:c.*366G>C	ENSP00000450419.1:n.*366G>C
ENST00000554550.5:c.*242G>C	ENSP00000451435.1:n.*242G>C
ENST00000554638.5:n.1094G>C
ENST00000555020.5:n.778G>C
ENST00000555086.5:n.626G>C
ENST00000555214.5:n.443G>C
ENST00000556244.1:c.609G>C
ENST00000556278.1:c.367G>C	ENSP00000451792.1:p.Ala123Pro
ENST00000556494.5:n.743G>C
ENST00000557706.5:n.1184G>C
NM_000155.3:c.622G>C	NP_000146.2:p.Ala208Pro
NM_001258332.1:c.295G>C	NP_001245261.1:p.Ala99Pro
NM_000155.4:c.622G>C MANE Select	NP_000146.2:p.Ala208Pro
NM_001258332.2:c.295G>C	NP_001245261.1:p.Ala99Pro