Canonical Allele Identifier: CA373281993

Gene: GALT

Linked Data

• MyVariant Identifiers: chr9:g.34648370G>C (hg19) ; chr9:g.34648373G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648373G>C , CM000671.2:g.34648373G>C	GRCh38
NC_000009.11:g.34648370G>C , CM000671.1:g.34648370G>C	GRCh37
NC_000009.10:g.34638370G>C	NCBI36
NG_009029.1:g.6736G>C
NG_028966.1:g.1189G>C
NG_009029.2:g.6785G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000691183.1:c.*192G>C	ENSP00000509954.1:n.*192G>C
ENST00000378842.8:c.604G>C MANE Select	ENSP00000368119.4:p.Glu202Gln
ENST00000378842.7:c.604G>C	ENSP00000368119.3:p.Glu202Gln
ENST00000450095.6:c.277G>C	ENSP00000401956.2:p.Glu93Gln
ENST00000472111.5:n.860G>C
ENST00000473506.6:c.*192G>C	ENSP00000432839.2:n.*192G>C
ENST00000473529.5:n.763G>C
ENST00000485531.1:n.1198G>C
ENST00000487381.5:n.989G>C
ENST00000489643.6:n.379G>C
ENST00000554085.5:c.*348G>C	ENSP00000450419.1:n.*348G>C
ENST00000554139.5:n.850G>C
ENST00000554550.5:c.*224G>C	ENSP00000451435.1:n.*224G>C
ENST00000554638.5:n.1076G>C
ENST00000554897.5:c.*291G>C	ENSP00000450942.1:n.*291G>C
ENST00000554944.5:n.953G>C
ENST00000555020.5:n.760G>C
ENST00000555086.5:n.608G>C
ENST00000555214.5:n.425G>C
ENST00000556244.1:c.591G>C
ENST00000556278.1:c.349G>C	ENSP00000451792.1:p.Glu117Gln
ENST00000556494.5:n.725G>C
ENST00000557706.5:n.1166G>C
NM_000155.3:c.604G>C	NP_000146.2:p.Glu202Gln
NM_001258332.1:c.277G>C	NP_001245261.1:p.Glu93Gln
NM_000155.4:c.604G>C MANE Select	NP_000146.2:p.Glu202Gln
NM_001258332.2:c.277G>C	NP_001245261.1:p.Glu93Gln