Canonical Allele Identifier: CA390752678

Gene: GALC

Linked Data

• MyVariant Identifiers: chr14:g.88452910T>G (hg19) ; chr14:g.87986566T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87986566T>G , CM000676.2:g.87986566T>G	GRCh38
NC_000014.8:g.88452910T>G , CM000676.1:g.88452910T>G	GRCh37
NC_000014.7:g.87522663T>G	NCBI36
NG_011853.2:g.11998A>C
NG_011853.3:g.11998A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.365A>C MANE Select	ENSP00000261304.2:p.Asp122Ala
ENST00000261304.6:c.365A>C	ENSP00000261304.2:p.Asp122Ala
ENST00000393568.8:c.296A>C	ENSP00000377198.4:p.Asp99Ala
ENST00000393569.6:c.287A>C	ENSP00000377199.2:p.Asp96Ala
ENST00000474294.6:n.355A>C
ENST00000544807.6:c.197A>C	ENSP00000437513.2:p.Asp66Ala
ENST00000554372.5:c.*114A>C	ENSP00000451884.1:n.*114A>C
ENST00000554916.5:n.244A>C
ENST00000556261.5:n.66A>C
ENST00000556879.5:c.425A>C	ENSP00000452208.1:n.425A>C
ENST00000557316.5:c.365A>C	ENSP00000452314.1:p.Asp122Ala
ENST00000622264.4:c.355A>C
NM_000153.3:c.365A>C	NP_000144.2:p.Asp122Ala
NM_001201401.1:c.296A>C	NP_001188330.1:p.Asp99Ala
NM_001201402.1:c.287A>C	NP_001188331.1:p.Asp96Ala
XM_011536618.1:c.197A>C	XP_011534920.1:p.Asp66Ala
XM_011536618.2:c.197A>C	XP_011534920.1:p.Asp66Ala
NM_000153.4:c.365A>C MANE Select	NP_000144.2:p.Asp122Ala
NM_001201401.2:c.296A>C	NP_001188330.1:p.Asp99Ala
NM_001201402.2:c.287A>C	NP_001188331.1:p.Asp96Ala