Canonical Allele Identifier: CA390749702

Gene: GALC

Linked Data

• gnomAD v4: 14-87976464-G-T
• MyVariant Identifiers: chr14:g.88442808G>T (hg19) ; chr14:g.87976464G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87976464G>T , CM000676.2:g.87976464G>T	GRCh38
NC_000014.8:g.88442808G>T , CM000676.1:g.88442808G>T	GRCh37
NC_000014.7:g.87512561G>T	NCBI36
NG_011853.2:g.22100C>A
NG_011853.3:g.22100C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.646C>A MANE Select	ENSP00000261304.2:p.Gln216Lys
ENST00000261304.6:c.646C>A	ENSP00000261304.2:p.Gln216Lys
ENST00000393568.8:c.577C>A	ENSP00000377198.4:p.Gln193Lys
ENST00000393569.6:c.568C>A	ENSP00000377199.2:p.Gln190Lys
ENST00000474294.6:n.636C>A
ENST00000477716.3:n.401C>A
ENST00000544807.6:c.478C>A	ENSP00000437513.2:p.Gln160Lys
ENST00000554916.5:n.525C>A
ENST00000555000.5:c.13C>A	ENSP00000450472.1:p.Gln5Lys
ENST00000557316.5:c.*44C>A	ENSP00000452314.1:n.*44C>A
ENST00000622264.4:c.636C>A
NM_000153.3:c.646C>A	NP_000144.2:p.Gln216Lys
NM_001201401.1:c.577C>A	NP_001188330.1:p.Gln193Lys
NM_001201402.1:c.568C>A	NP_001188331.1:p.Gln190Lys
XM_011536618.1:c.478C>A	XP_011534920.1:p.Gln160Lys
XM_011536618.2:c.478C>A	XP_011534920.1:p.Gln160Lys
NM_000153.4:c.646C>A MANE Select	NP_000144.2:p.Gln216Lys
NM_001201401.2:c.577C>A	NP_001188330.1:p.Gln193Lys
NM_001201402.2:c.568C>A	NP_001188331.1:p.Gln190Lys