Canonical Allele Identifier: CA390746216

Gene: GALC

Linked Data

• gnomAD v4: 14-87945676-T-C
• MyVariant Identifiers: chr14:g.88412020T>C (hg19) ; chr14:g.87945676T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87945676T>C , CM000676.2:g.87945676T>C	GRCh38
NC_000014.8:g.88412020T>C , CM000676.1:g.88412020T>C	GRCh37
NC_000014.7:g.87481773T>C	NCBI36
NG_011853.2:g.52888A>G
NG_011853.3:g.52888A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.1547A>G MANE Select	ENSP00000261304.2:p.Tyr516Cys
ENST00000261304.6:c.1547A>G	ENSP00000261304.2:p.Tyr516Cys
ENST00000393568.8:c.1478A>G	ENSP00000377198.4:p.Tyr493Cys
ENST00000393569.6:c.1469A>G	ENSP00000377199.2:p.Tyr490Cys
ENST00000544807.6:c.1379A>G	ENSP00000437513.2:p.Tyr460Cys
ENST00000555000.5:c.914A>G	ENSP00000450472.1:p.Tyr305Cys
ENST00000555179.1:c.206+2052A>G
ENST00000557316.5:c.*945A>G	ENSP00000452314.1:n.*945A>G
NM_000153.3:c.1547A>G	NP_000144.2:p.Tyr516Cys
NM_001201401.1:c.1478A>G	NP_001188330.1:p.Tyr493Cys
NM_001201402.1:c.1469A>G	NP_001188331.1:p.Tyr490Cys
XM_011536618.1:c.1379A>G	XP_011534920.1:p.Tyr460Cys
XM_011536618.2:c.1379A>G	XP_011534920.1:p.Tyr460Cys
NM_000153.4:c.1547A>G MANE Select	NP_000144.2:p.Tyr516Cys
NM_001201401.2:c.1478A>G	NP_001188330.1:p.Tyr493Cys
NM_001201402.2:c.1469A>G	NP_001188331.1:p.Tyr490Cys