Canonical Allele Identifier: CA390745549

Gene: GALC

Linked Data

• MyVariant Identifiers: chr14:g.88406319C>A (hg19) ; chr14:g.87939975C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87939975C>A , CM000676.2:g.87939975C>A	GRCh38
NC_000014.8:g.88406319C>A , CM000676.1:g.88406319C>A	GRCh37
NC_000014.7:g.87476072C>A	NCBI36
NG_011853.2:g.58589G>T
NG_011853.3:g.58589G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000261304.7:c.1841G>T MANE Select	ENSP00000261304.2:p.Trp614Leu
ENST00000261304.6:c.1841G>T	ENSP00000261304.2:p.Trp614Leu
ENST00000393568.8:c.1772G>T	ENSP00000377198.4:p.Trp591Leu
ENST00000393569.6:c.1763G>T	ENSP00000377199.2:p.Trp588Leu
ENST00000544807.6:c.1673G>T	ENSP00000437513.2:p.Trp558Leu
ENST00000555000.5:c.1208G>T	ENSP00000450472.1:p.Trp403Leu
ENST00000555179.1:c.377G>T
NM_000153.3:c.1841G>T	NP_000144.2:p.Trp614Leu
NM_001201401.1:c.1772G>T	NP_001188330.1:p.Trp591Leu
NM_001201402.1:c.1763G>T	NP_001188331.1:p.Trp588Leu
XM_011536618.1:c.1673G>T	XP_011534920.1:p.Trp558Leu
XM_011536618.2:c.1673G>T	XP_011534920.1:p.Trp558Leu
NM_000153.4:c.1841G>T MANE Select	NP_000144.2:p.Trp614Leu
NM_001201401.2:c.1772G>T	NP_001188330.1:p.Trp591Leu
NM_001201402.2:c.1763G>T	NP_001188331.1:p.Trp588Leu