Canonical Allele Identifier: CA487366702

Gene: GALC

Linked Data

• ClinVar Variation Id: 1575807
• ClinVar RCV Id: RCV002075405
• dbSNP Id: rs2139759411
• MyVariant Identifiers: chr14:g.88454829A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87988485A>G , CM000676.2:g.87988485A>G	GRCh38
NC_000014.8:g.88454829A>G , CM000676.1:g.88454829A>G	GRCh37
NC_000014.7:g.87524582A>G	NCBI36
NG_011853.2:g.10079T>C
NG_011853.3:g.10079T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000261304.7:c.234T>C MANE Select	ENSP00000261304.2:p.Tyr78=
ENST00000261304.6:c.234T>C	ENSP00000261304.2:p.Tyr78=
ENST00000393568.8:c.196-278T>C	ENSP00000377198.4:n.196-278T>C
ENST00000393569.6:c.156T>C	ENSP00000377199.2:p.Tyr52=
ENST00000474294.6:n.224T>C
ENST00000544807.6:c.66T>C	ENSP00000437513.2:p.Tyr22=
ENST00000554372.5:c.234T>C	ENSP00000451884.1:p.Tyr78=
ENST00000554916.5:n.113T>C
ENST00000555956.1:n.39T>C
ENST00000556879.5:c.294T>C	ENSP00000452208.1:n.294T>C
ENST00000557316.5:c.234T>C	ENSP00000452314.1:p.Tyr78=
ENST00000622264.4:c.224T>C
NM_000153.3:c.234T>C	NP_000144.2:p.Tyr78=
NM_001201401.1:c.196-278T>C	NP_001188330.1:n.196-278T>C
NM_001201402.1:c.156T>C	NP_001188331.1:p.Tyr52=
XM_011536618.1:c.66T>C	XP_011534920.1:p.Tyr22=
XM_011536618.2:c.66T>C	XP_011534920.1:p.Tyr22=
NM_000153.4:c.234T>C MANE Select	NP_000144.2:p.Tyr78=
NM_001201401.2:c.196-278T>C	NP_001188330.1:n.196-278T>C
NM_001201402.2:c.156T>C	NP_001188331.1:p.Tyr52=