Canonical Allele Identifier: CA390746310

Gene: GALC

Linked Data

• gnomAD v4: 14-87945718-C-T
• MyVariant Identifiers: chr14:g.88412062C>T (hg19) ; chr14:g.87945718C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87945718C>T , CM000676.2:g.87945718C>T	GRCh38
NC_000014.8:g.88412062C>T , CM000676.1:g.88412062C>T	GRCh37
NC_000014.7:g.87481815C>T	NCBI36
NG_011853.2:g.52846G>A
NG_011853.3:g.52846G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.1505G>A MANE Select	ENSP00000261304.2:p.Ser502Asn
ENST00000261304.6:c.1505G>A	ENSP00000261304.2:p.Ser502Asn
ENST00000393568.8:c.1436G>A	ENSP00000377198.4:p.Ser479Asn
ENST00000393569.6:c.1427G>A	ENSP00000377199.2:p.Ser476Asn
ENST00000544807.6:c.1337G>A	ENSP00000437513.2:p.Ser446Asn
ENST00000555000.5:c.872G>A	ENSP00000450472.1:p.Ser291Asn
ENST00000555179.1:c.206+2010G>A
ENST00000557316.5:c.*903G>A	ENSP00000452314.1:n.*903G>A
NM_000153.3:c.1505G>A	NP_000144.2:p.Ser502Asn
NM_001201401.1:c.1436G>A	NP_001188330.1:p.Ser479Asn
NM_001201402.1:c.1427G>A	NP_001188331.1:p.Ser476Asn
XM_011536618.1:c.1337G>A	XP_011534920.1:p.Ser446Asn
XM_011536618.2:c.1337G>A	XP_011534920.1:p.Ser446Asn
NM_000153.4:c.1505G>A MANE Select	NP_000144.2:p.Ser502Asn
NM_001201401.2:c.1436G>A	NP_001188330.1:p.Ser479Asn
NM_001201402.2:c.1427G>A	NP_001188331.1:p.Ser476Asn