Canonical Allele Identifier: CA390749309

Gene: GALC

Linked Data

• MyVariant Identifiers: chr14:g.88442719C>G (hg19) ; chr14:g.87976375C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87976375C>G , CM000676.2:g.87976375C>G	GRCh38
NC_000014.8:g.88442719C>G , CM000676.1:g.88442719C>G	GRCh37
NC_000014.7:g.87512472C>G	NCBI36
NG_011853.2:g.22189G>C
NG_011853.3:g.22189G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.735G>C MANE Select	ENSP00000261304.2:p.Lys245Asn
ENST00000261304.6:c.735G>C	ENSP00000261304.2:p.Lys245Asn
ENST00000393568.8:c.666G>C	ENSP00000377198.4:p.Lys222Asn
ENST00000393569.6:c.657G>C	ENSP00000377199.2:p.Lys219Asn
ENST00000474294.6:n.725G>C
ENST00000477716.3:n.490G>C
ENST00000544807.6:c.567G>C	ENSP00000437513.2:p.Lys189Asn
ENST00000554916.5:n.614G>C
ENST00000555000.5:c.102G>C	ENSP00000450472.1:p.Lys34Asn
ENST00000557316.5:c.*133G>C	ENSP00000452314.1:n.*133G>C
ENST00000622264.4:c.725G>C
NM_000153.3:c.735G>C	NP_000144.2:p.Lys245Asn
NM_001201401.1:c.666G>C	NP_001188330.1:p.Lys222Asn
NM_001201402.1:c.657G>C	NP_001188331.1:p.Lys219Asn
XM_011536618.1:c.567G>C	XP_011534920.1:p.Lys189Asn
XM_011536618.2:c.567G>C	XP_011534920.1:p.Lys189Asn
NM_000153.4:c.735G>C MANE Select	NP_000144.2:p.Lys245Asn
NM_001201401.2:c.666G>C	NP_001188330.1:p.Lys222Asn
NM_001201402.2:c.657G>C	NP_001188331.1:p.Lys219Asn