Canonical Allele Identifier: CA390771746

Gene: GALC

Linked Data

• ClinVar Variation Id: 1386595
• ClinVar RCV Id: RCV001905821
• dbSNP Id: rs2139769302
• MyVariant Identifiers: chr14:g.88459364C>G (hg19) ; chr14:g.87993020C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87993020C>G , CM000676.2:g.87993020C>G	GRCh38
NC_000014.8:g.88459364C>G , CM000676.1:g.88459364C>G	GRCh37
NC_000014.7:g.87529117C>G	NCBI36
NG_011853.2:g.5544G>C
NG_011853.3:g.5544G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.145G>C MANE Select	ENSP00000261304.2:p.Asp49His
ENST00000261304.6:c.145G>C	ENSP00000261304.2:p.Asp49His
ENST00000393568.8:c.145G>C	ENSP00000377198.4:p.Asp49His
ENST00000393569.6:c.117+363G>C	ENSP00000377199.2:n.117+363G>C
ENST00000474294.6:n.135G>C
ENST00000554372.5:c.145G>C	ENSP00000451884.1:p.Asp49His
ENST00000556879.5:c.103G>C	ENSP00000452208.1:p.Asp35His
ENST00000557316.5:c.145G>C	ENSP00000452314.1:p.Asp49His
ENST00000622264.4:c.135G>C
NM_000153.3:c.145G>C	NP_000144.2:p.Asp49His
NM_001201401.1:c.145G>C	NP_001188330.1:p.Asp49His
NM_001201402.1:c.117+363G>C	NP_001188331.1:n.117+363G>C
NM_000153.4:c.145G>C MANE Select	NP_000144.2:p.Asp49His
NM_001201401.2:c.145G>C	NP_001188330.1:p.Asp49His
NM_001201402.2:c.117+363G>C	NP_001188331.1:n.117+363G>C