Canonical Allele Identifier: CA487365212

Gene: GALC

Linked Data

• ClinVar Variation Id: 1690766
• ClinVar RCV Id: RCV002253184
• dbSNP Id: rs2140001425
• gnomAD v4: 14-87968346-G-C
• MyVariant Identifiers: chr14:g.88434690G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87968346G>C , CM000676.2:g.87968346G>C	GRCh38
NC_000014.8:g.88434690G>C , CM000676.1:g.88434690G>C	GRCh37
NC_000014.7:g.87504443G>C	NCBI36
NG_011853.2:g.30218C>G
NG_011853.3:g.30218C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000261304.7:c.897C>G MANE Select	ENSP00000261304.2:p.Gly299=
ENST00000261304.6:c.897C>G	ENSP00000261304.2:p.Gly299=
ENST00000393568.8:c.828C>G	ENSP00000377198.4:p.Gly276=
ENST00000393569.6:c.819C>G	ENSP00000377199.2:p.Gly273=
ENST00000474294.6:n.887C>G
ENST00000544807.6:c.729C>G	ENSP00000437513.2:p.Gly243=
ENST00000555000.5:c.264C>G	ENSP00000450472.1:p.Gly88=
ENST00000557316.5:c.*295C>G	ENSP00000452314.1:n.*295C>G
ENST00000622264.4:c.887C>G
NM_000153.3:c.897C>G	NP_000144.2:p.Gly299=
NM_001201401.1:c.828C>G	NP_001188330.1:p.Gly276=
NM_001201402.1:c.819C>G	NP_001188331.1:p.Gly273=
XM_011536618.1:c.729C>G	XP_011534920.1:p.Gly243=
XM_011536618.2:c.729C>G	XP_011534920.1:p.Gly243=
NM_000153.4:c.897C>G MANE Select	NP_000144.2:p.Gly299=
NM_001201401.2:c.828C>G	NP_001188330.1:p.Gly276=
NM_001201402.2:c.819C>G	NP_001188331.1:p.Gly273=