Canonical Allele Identifier: CA373282177

Gene: GALT

Linked Data

• MyVariant Identifiers: chr9:g.34648406G>C (hg19) ; chr9:g.34648409G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.34648409G>C , CM000671.2:g.34648409G>C	GRCh38
NC_000009.11:g.34648406G>C , CM000671.1:g.34648406G>C	GRCh37
NC_000009.10:g.34638406G>C	NCBI36
NG_009029.1:g.6772G>C
NG_028966.1:g.1225G>C
NG_009029.2:g.6821G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000691183.1:c.*228G>C	ENSP00000509954.1:n.*228G>C
ENST00000378842.8:c.640G>C MANE Select	ENSP00000368119.4:p.Gly214Arg
ENST00000378842.7:c.640G>C	ENSP00000368119.3:p.Gly214Arg
ENST00000450095.6:c.313G>C	ENSP00000401956.2:p.Gly105Arg
ENST00000472111.5:n.896G>C
ENST00000473506.6:c.*228G>C	ENSP00000432839.2:n.*228G>C
ENST00000473529.5:n.799G>C
ENST00000487381.5:n.1025G>C
ENST00000489643.6:n.415G>C
ENST00000554085.5:c.*384G>C	ENSP00000450419.1:n.*384G>C
ENST00000554550.5:c.*260G>C	ENSP00000451435.1:n.*260G>C
ENST00000554638.5:n.1112G>C
ENST00000555020.5:n.796G>C
ENST00000555086.5:n.644G>C
ENST00000555214.5:n.461G>C
ENST00000556244.1:c.627G>C
ENST00000556278.1:c.385G>C	ENSP00000451792.1:p.Gly129Arg
ENST00000556494.5:n.761G>C
ENST00000557706.5:n.1202G>C
NM_000155.3:c.640G>C	NP_000146.2:p.Gly214Arg
NM_001258332.1:c.313G>C	NP_001245261.1:p.Gly105Arg
NM_000155.4:c.640G>C MANE Select	NP_000146.2:p.Gly214Arg
NM_001258332.2:c.313G>C	NP_001245261.1:p.Gly105Arg