Canonical Allele Identifier: CA390753447

Gene: GALC

Linked Data

• ClinVar Variation Id: 1067798
• ClinVar RCV Id: RCV001379158
• dbSNP Id: rs1478697086
• gnomAD v4: 14-87988519-G-A
• MyVariant Identifiers: chr14:g.88454863G>A (hg19) ; chr14:g.87988519G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87988519G>A , CM000676.2:g.87988519G>A	GRCh38
NC_000014.8:g.88454863G>A , CM000676.1:g.88454863G>A	GRCh37
NC_000014.7:g.87524616G>A	NCBI36
NG_011853.2:g.10045C>T
NG_011853.3:g.10045C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000261304.7:c.200C>T MANE Select	ENSP00000261304.2:p.Thr67Ile
ENST00000261304.6:c.200C>T	ENSP00000261304.2:p.Thr67Ile
ENST00000393568.8:c.196-312C>T	ENSP00000377198.4:n.196-312C>T
ENST00000393569.6:c.122C>T	ENSP00000377199.2:p.Thr41Ile
ENST00000474294.6:n.190C>T
ENST00000544807.6:c.32C>T	ENSP00000437513.2:p.Thr11Ile
ENST00000554372.5:c.200C>T	ENSP00000451884.1:p.Thr67Ile
ENST00000554916.5:n.79C>T
ENST00000555956.1:n.5C>T
ENST00000556879.5:c.260C>T	ENSP00000452208.1:n.260C>T
ENST00000557316.5:c.200C>T	ENSP00000452314.1:p.Thr67Ile
ENST00000622264.4:c.190C>T
NM_000153.3:c.200C>T	NP_000144.2:p.Thr67Ile
NM_001201401.1:c.196-312C>T	NP_001188330.1:n.196-312C>T
NM_001201402.1:c.122C>T	NP_001188331.1:p.Thr41Ile
XM_011536618.1:c.32C>T	XP_011534920.1:p.Thr11Ile
XM_011536618.2:c.32C>T	XP_011534920.1:p.Thr11Ile
NM_000153.4:c.200C>T MANE Select	NP_000144.2:p.Thr67Ile
NM_001201401.2:c.196-312C>T	NP_001188330.1:n.196-312C>T
NM_001201402.2:c.122C>T	NP_001188331.1:p.Thr41Ile