Canonical Allele Identifier: CA145825

Gene: GALC

Linked Data

• ClinVar Variation Id: 92513
• ClinVar RCV Id: RCV000078210 ; RCV000343591 ; RCV000675261
• dbSNP Id: rs12888666
• ExAC: 14:88431898 C / T
• gnomAD v2: 14-88431898-C-T
• gnomAD v3: 14-87965554-C-T
• gnomAD v4: 14-87965554-C-T
• MyVariant Identifiers: chr14:g.88431898C>T (hg19) ; chr14:g.87965554C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87965554C>T , CM000676.2:g.87965554C>T	GRCh38
NC_000014.8:g.88431898C>T , CM000676.1:g.88431898C>T	GRCh37
NC_000014.7:g.87501651C>T	NCBI36
NG_011853.2:g.33010G>A
NG_011853.3:g.33010G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.984G>A MANE Select	ENSP00000261304.2:p.Gln328=
ENST00000261304.6:c.984G>A	ENSP00000261304.2:p.Gln328=
ENST00000393568.8:c.915G>A	ENSP00000377198.4:p.Gln305=
ENST00000393569.6:c.906G>A	ENSP00000377199.2:p.Gln302=
ENST00000474294.6:n.974G>A
ENST00000544807.6:c.816G>A	ENSP00000437513.2:p.Gln272=
ENST00000555000.5:c.351G>A	ENSP00000450472.1:p.Gln117=
ENST00000557316.5:c.*382G>A	ENSP00000452314.1:n.*382G>A
ENST00000557520.1:n.70G>A
ENST00000622264.4:c.974G>A
NM_000153.3:c.984G>A	NP_000144.2:p.Gln328=
NM_001201401.1:c.915G>A	NP_001188330.1:p.Gln305=
NM_001201402.1:c.906G>A	NP_001188331.1:p.Gln302=
XM_011536618.1:c.816G>A	XP_011534920.1:p.Gln272=
XM_011536618.2:c.816G>A	XP_011534920.1:p.Gln272=
NM_000153.4:c.984G>A MANE Select	NP_000144.2:p.Gln328=
NM_001201401.2:c.915G>A	NP_001188330.1:p.Gln305=
NM_001201402.2:c.906G>A	NP_001188331.1:p.Gln302=