Canonical Allele Identifier: CA373281843

Gene: GALT

Linked Data

• MyVariant Identifiers: chr9:g.34648340A>C (hg19) ; chr9:g.34648343A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648343A>C , CM000671.2:g.34648343A>C	GRCh38
NC_000009.11:g.34648340A>C , CM000671.1:g.34648340A>C	GRCh37
NC_000009.10:g.34638340A>C	NCBI36
NG_009029.1:g.6706A>C
NG_028966.1:g.1159A>C
NG_009029.2:g.6755A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*162A>C	ENSP00000509954.1:n.*162A>C
ENST00000378842.8:c.574A>C MANE Select	ENSP00000368119.4:p.Ser192Arg
ENST00000378842.7:c.574A>C	ENSP00000368119.3:p.Ser192Arg
ENST00000450095.6:c.247A>C	ENSP00000401956.2:p.Ser83Arg
ENST00000472111.5:n.830A>C
ENST00000473506.6:c.*162A>C	ENSP00000432839.2:n.*162A>C
ENST00000473529.5:n.733A>C
ENST00000485531.1:n.1168A>C
ENST00000487381.5:n.959A>C
ENST00000489643.6:n.349A>C
ENST00000554085.5:c.*318A>C	ENSP00000450419.1:n.*318A>C
ENST00000554139.5:n.820A>C
ENST00000554550.5:c.*194A>C	ENSP00000451435.1:n.*194A>C
ENST00000554638.5:n.1046A>C
ENST00000554897.5:c.*261A>C	ENSP00000450942.1:n.*261A>C
ENST00000554944.5:n.923A>C
ENST00000555020.5:n.730A>C
ENST00000555086.5:n.578A>C
ENST00000555214.5:n.395A>C
ENST00000556244.1:c.561A>C
ENST00000556278.1:c.319A>C	ENSP00000451792.1:p.Ser107Arg
ENST00000556494.5:n.695A>C
ENST00000557706.5:n.1136A>C
NM_000155.3:c.574A>C	NP_000146.2:p.Ser192Arg
NM_001258332.1:c.247A>C	NP_001245261.1:p.Ser83Arg
NM_000155.4:c.574A>C MANE Select	NP_000146.2:p.Ser192Arg
NM_001258332.2:c.247A>C	NP_001245261.1:p.Ser83Arg