Canonical Allele Identifier: CA7297267

Gene: GALC

Linked Data

• dbSNP Id: rs754560707
• ExAC: 14:88442720 T / C
• gnomAD v2: 14-88442720-T-C
• gnomAD v4: 14-87976376-T-C
• MyVariant Identifiers: chr14:g.88442720T>C (hg19) ; chr14:g.87976376T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87976376T>C , CM000676.2:g.87976376T>C	GRCh38
NC_000014.8:g.88442720T>C , CM000676.1:g.88442720T>C	GRCh37
NC_000014.7:g.87512473T>C	NCBI36
NG_011853.2:g.22188A>G
NG_011853.3:g.22188A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.734A>G MANE Select	ENSP00000261304.2:p.Lys245Arg
ENST00000261304.6:c.734A>G	ENSP00000261304.2:p.Lys245Arg
ENST00000393568.8:c.665A>G	ENSP00000377198.4:p.Lys222Arg
ENST00000393569.6:c.656A>G	ENSP00000377199.2:p.Lys219Arg
ENST00000474294.6:n.724A>G
ENST00000477716.3:n.489A>G
ENST00000544807.6:c.566A>G	ENSP00000437513.2:p.Lys189Arg
ENST00000554916.5:n.613A>G
ENST00000555000.5:c.101A>G	ENSP00000450472.1:p.Lys34Arg
ENST00000557316.5:c.*132A>G	ENSP00000452314.1:n.*132A>G
ENST00000622264.4:c.724A>G
NM_000153.3:c.734A>G	NP_000144.2:p.Lys245Arg
NM_001201401.1:c.665A>G	NP_001188330.1:p.Lys222Arg
NM_001201402.1:c.656A>G	NP_001188331.1:p.Lys219Arg
XM_011536618.1:c.566A>G	XP_011534920.1:p.Lys189Arg
XM_011536618.2:c.566A>G	XP_011534920.1:p.Lys189Arg
NM_000153.4:c.734A>G MANE Select	NP_000144.2:p.Lys245Arg
NM_001201401.2:c.665A>G	NP_001188330.1:p.Lys222Arg
NM_001201402.2:c.656A>G	NP_001188331.1:p.Lys219Arg