Canonical Allele Identifier: CA390745546

Gene: GALC

Linked Data

• dbSNP Id: rs1884767890
• gnomAD v4: 14-87939974-C-A
• MyVariant Identifiers: chr14:g.88406318C>A (hg19) ; chr14:g.87939974C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87939974C>A , CM000676.2:g.87939974C>A	GRCh38
NC_000014.8:g.88406318C>A , CM000676.1:g.88406318C>A	GRCh37
NC_000014.7:g.87476071C>A	NCBI36
NG_011853.2:g.58590G>T
NG_011853.3:g.58590G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000261304.7:c.1842G>T MANE Select	ENSP00000261304.2:p.Trp614Cys
ENST00000261304.6:c.1842G>T	ENSP00000261304.2:p.Trp614Cys
ENST00000393568.8:c.1773G>T	ENSP00000377198.4:p.Trp591Cys
ENST00000393569.6:c.1764G>T	ENSP00000377199.2:p.Trp588Cys
ENST00000544807.6:c.1674G>T	ENSP00000437513.2:p.Trp558Cys
ENST00000555000.5:c.1209G>T	ENSP00000450472.1:p.Trp403Cys
ENST00000555179.1:c.378G>T
NM_000153.3:c.1842G>T	NP_000144.2:p.Trp614Cys
NM_001201401.1:c.1773G>T	NP_001188330.1:p.Trp591Cys
NM_001201402.1:c.1764G>T	NP_001188331.1:p.Trp588Cys
XM_011536618.1:c.1674G>T	XP_011534920.1:p.Trp558Cys
XM_011536618.2:c.1674G>T	XP_011534920.1:p.Trp558Cys
NM_000153.4:c.1842G>T MANE Select	NP_000144.2:p.Trp614Cys
NM_001201401.2:c.1773G>T	NP_001188330.1:p.Trp591Cys
NM_001201402.2:c.1764G>T	NP_001188331.1:p.Trp588Cys