Canonical Allele Identifier: CA390752431

Gene: GALC

Linked Data

• MyVariant Identifiers: chr14:g.88452863T>G (hg19) ; chr14:g.87986519T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87986519T>G , CM000676.2:g.87986519T>G	GRCh38
NC_000014.8:g.88452863T>G , CM000676.1:g.88452863T>G	GRCh37
NC_000014.7:g.87522616T>G	NCBI36
NG_011853.2:g.12045A>C
NG_011853.3:g.12045A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.412A>C MANE Select	ENSP00000261304.2:p.Lys138Gln
ENST00000261304.6:c.412A>C	ENSP00000261304.2:p.Lys138Gln
ENST00000393568.8:c.343A>C	ENSP00000377198.4:p.Lys115Gln
ENST00000393569.6:c.334A>C	ENSP00000377199.2:p.Lys112Gln
ENST00000474294.6:n.402A>C
ENST00000544807.6:c.244A>C	ENSP00000437513.2:p.Lys82Gln
ENST00000554372.5:c.*161A>C	ENSP00000451884.1:n.*161A>C
ENST00000554916.5:n.291A>C
ENST00000556261.5:n.113A>C
ENST00000556879.5:c.472A>C	ENSP00000452208.1:n.472A>C
ENST00000557316.5:c.412A>C	ENSP00000452314.1:p.Lys138Gln
ENST00000622264.4:c.402A>C
NM_000153.3:c.412A>C	NP_000144.2:p.Lys138Gln
NM_001201401.1:c.343A>C	NP_001188330.1:p.Lys115Gln
NM_001201402.1:c.334A>C	NP_001188331.1:p.Lys112Gln
XM_011536618.1:c.244A>C	XP_011534920.1:p.Lys82Gln
XM_011536618.2:c.244A>C	XP_011534920.1:p.Lys82Gln
NM_000153.4:c.412A>C MANE Select	NP_000144.2:p.Lys138Gln
NM_001201401.2:c.343A>C	NP_001188330.1:p.Lys115Gln
NM_001201402.2:c.334A>C	NP_001188331.1:p.Lys112Gln