Canonical Allele Identifier: CA390749527

Gene: GALC

Linked Data

• dbSNP Id: rs1410694817
• gnomAD v2: 14-88442765-C-A
• gnomAD v4: 14-87976421-C-A
• MyVariant Identifiers: chr14:g.88442765C>A (hg19) ; chr14:g.87976421C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87976421C>A , CM000676.2:g.87976421C>A	GRCh38
NC_000014.8:g.88442765C>A , CM000676.1:g.88442765C>A	GRCh37
NC_000014.7:g.87512518C>A	NCBI36
NG_011853.2:g.22143G>T
NG_011853.3:g.22143G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.689G>T MANE Select	ENSP00000261304.2:p.Trp230Leu
ENST00000261304.6:c.689G>T	ENSP00000261304.2:p.Trp230Leu
ENST00000393568.8:c.620G>T	ENSP00000377198.4:p.Trp207Leu
ENST00000393569.6:c.611G>T	ENSP00000377199.2:p.Trp204Leu
ENST00000474294.6:n.679G>T
ENST00000477716.3:n.444G>T
ENST00000544807.6:c.521G>T	ENSP00000437513.2:p.Trp174Leu
ENST00000554916.5:n.568G>T
ENST00000555000.5:c.56G>T	ENSP00000450472.1:p.Trp19Leu
ENST00000557316.5:c.*87G>T	ENSP00000452314.1:n.*87G>T
ENST00000622264.4:c.679G>T
NM_000153.3:c.689G>T	NP_000144.2:p.Trp230Leu
NM_001201401.1:c.620G>T	NP_001188330.1:p.Trp207Leu
NM_001201402.1:c.611G>T	NP_001188331.1:p.Trp204Leu
XM_011536618.1:c.521G>T	XP_011534920.1:p.Trp174Leu
XM_011536618.2:c.521G>T	XP_011534920.1:p.Trp174Leu
NM_000153.4:c.689G>T MANE Select	NP_000144.2:p.Trp230Leu
NM_001201401.2:c.620G>T	NP_001188330.1:p.Trp207Leu
NM_001201402.2:c.611G>T	NP_001188331.1:p.Trp204Leu