Canonical Allele Identifier: CA390747600

Gene: GALC

Linked Data

• ClinVar Variation Id: 1473916
• ClinVar RCV Id: RCV001970934
• dbSNP Id: rs2139996434
• MyVariant Identifiers: chr14:g.88431942A>G (hg19) ; chr14:g.87965598A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87965598A>G , CM000676.2:g.87965598A>G	GRCh38
NC_000014.8:g.88431942A>G , CM000676.1:g.88431942A>G	GRCh37
NC_000014.7:g.87501695A>G	NCBI36
NG_011853.2:g.32966T>C
NG_011853.3:g.32966T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000261304.7:c.940T>C MANE Select	ENSP00000261304.2:p.Tyr314His
ENST00000261304.6:c.940T>C	ENSP00000261304.2:p.Tyr314His
ENST00000393568.8:c.871T>C	ENSP00000377198.4:p.Tyr291His
ENST00000393569.6:c.862T>C	ENSP00000377199.2:p.Tyr288His
ENST00000474294.6:n.930T>C
ENST00000544807.6:c.772T>C	ENSP00000437513.2:p.Tyr258His
ENST00000555000.5:c.307T>C	ENSP00000450472.1:p.Tyr103His
ENST00000557316.5:c.*338T>C	ENSP00000452314.1:n.*338T>C
ENST00000557520.1:n.26T>C
ENST00000622264.4:c.930T>C
NM_000153.3:c.940T>C	NP_000144.2:p.Tyr314His
NM_001201401.1:c.871T>C	NP_001188330.1:p.Tyr291His
NM_001201402.1:c.862T>C	NP_001188331.1:p.Tyr288His
XM_011536618.1:c.772T>C	XP_011534920.1:p.Tyr258His
XM_011536618.2:c.772T>C	XP_011534920.1:p.Tyr258His
NM_000153.4:c.940T>C MANE Select	NP_000144.2:p.Tyr314His
NM_001201401.2:c.871T>C	NP_001188330.1:p.Tyr291His
NM_001201402.2:c.862T>C	NP_001188331.1:p.Tyr288His