Canonical Allele Identifier: CA487366733

Gene: GALC

Linked Data

• ClinVar Variation Id: 1608665
• ClinVar RCV Id: RCV002147605
• dbSNP Id: rs1375871159
• MyVariant Identifiers: chr14:g.88454865T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87988521T>G , CM000676.2:g.87988521T>G	GRCh38
NC_000014.8:g.88454865T>G , CM000676.1:g.88454865T>G	GRCh37
NC_000014.7:g.87524618T>G	NCBI36
NG_011853.2:g.10043A>C
NG_011853.3:g.10043A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000261304.7:c.198A>C MANE Select	ENSP00000261304.2:p.Ala66=
ENST00000261304.6:c.198A>C	ENSP00000261304.2:p.Ala66=
ENST00000393568.8:c.196-314A>C	ENSP00000377198.4:n.196-314A>C
ENST00000393569.6:c.120A>C	ENSP00000377199.2:p.Ala40=
ENST00000474294.6:n.188A>C
ENST00000544807.6:c.30A>C	ENSP00000437513.2:p.Ala10=
ENST00000554372.5:c.198A>C	ENSP00000451884.1:p.Ala66=
ENST00000554916.5:n.77A>C
ENST00000555956.1:n.3A>C
ENST00000556879.5:c.258A>C	ENSP00000452208.1:n.258A>C
ENST00000557316.5:c.198A>C	ENSP00000452314.1:p.Ala66=
ENST00000622264.4:c.188A>C
NM_000153.3:c.198A>C	NP_000144.2:p.Ala66=
NM_001201401.1:c.196-314A>C	NP_001188330.1:n.196-314A>C
NM_001201402.1:c.120A>C	NP_001188331.1:p.Ala40=
XM_011536618.1:c.30A>C	XP_011534920.1:p.Ala10=
XM_011536618.2:c.30A>C	XP_011534920.1:p.Ala10=
NM_000153.4:c.198A>C MANE Select	NP_000144.2:p.Ala66=
NM_001201401.2:c.196-314A>C	NP_001188330.1:n.196-314A>C
NM_001201402.2:c.120A>C	NP_001188331.1:p.Ala40=