Canonical Allele Identifier: CA390752605

Gene: GALC

Linked Data

• ClinVar Variation Id: 975391
• ClinVar RCV Id: RCV001251989
• dbSNP Id: rs775886832
• MyVariant Identifiers: chr14:g.88452895C>A (hg19) ; chr14:g.87986551C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87986551C>A , CM000676.2:g.87986551C>A	GRCh38
NC_000014.8:g.88452895C>A , CM000676.1:g.88452895C>A	GRCh37
NC_000014.7:g.87522648C>A	NCBI36
NG_011853.2:g.12013G>T
NG_011853.3:g.12013G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.380G>T MANE Select	ENSP00000261304.2:p.Arg127Leu
ENST00000261304.6:c.380G>T	ENSP00000261304.2:p.Arg127Leu
ENST00000393568.8:c.311G>T	ENSP00000377198.4:p.Arg104Leu
ENST00000393569.6:c.302G>T	ENSP00000377199.2:p.Arg101Leu
ENST00000474294.6:n.370G>T
ENST00000544807.6:c.212G>T	ENSP00000437513.2:p.Arg71Leu
ENST00000554372.5:c.*129G>T	ENSP00000451884.1:n.*129G>T
ENST00000554916.5:n.259G>T
ENST00000556261.5:n.81G>T
ENST00000556879.5:c.440G>T	ENSP00000452208.1:n.440G>T
ENST00000557316.5:c.380G>T	ENSP00000452314.1:p.Arg127Leu
ENST00000622264.4:c.370G>T
NM_000153.3:c.380G>T	NP_000144.2:p.Arg127Leu
NM_001201401.1:c.311G>T	NP_001188330.1:p.Arg104Leu
NM_001201402.1:c.302G>T	NP_001188331.1:p.Arg101Leu
XM_011536618.1:c.212G>T	XP_011534920.1:p.Arg71Leu
XM_011536618.2:c.212G>T	XP_011534920.1:p.Arg71Leu
NM_000153.4:c.380G>T MANE Select	NP_000144.2:p.Arg127Leu
NM_001201401.2:c.311G>T	NP_001188330.1:p.Arg104Leu
NM_001201402.2:c.302G>T	NP_001188331.1:p.Arg101Leu