Canonical Allele Identifier: CA390747703

Gene: GALC

Linked Data

• dbSNP Id: rs1394975427
• gnomAD v2: 14-88434688-T-C
• gnomAD v4: 14-87968344-T-C
• MyVariant Identifiers: chr14:g.88434688T>C (hg19) ; chr14:g.87968344T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87968344T>C , CM000676.2:g.87968344T>C	GRCh38
NC_000014.8:g.88434688T>C , CM000676.1:g.88434688T>C	GRCh37
NC_000014.7:g.87504441T>C	NCBI36
NG_011853.2:g.30220A>G
NG_011853.3:g.30220A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000261304.7:c.899A>G MANE Select	ENSP00000261304.2:p.Tyr300Cys
ENST00000261304.6:c.899A>G	ENSP00000261304.2:p.Tyr300Cys
ENST00000393568.8:c.830A>G	ENSP00000377198.4:p.Tyr277Cys
ENST00000393569.6:c.821A>G	ENSP00000377199.2:p.Tyr274Cys
ENST00000474294.6:n.889A>G
ENST00000544807.6:c.731A>G	ENSP00000437513.2:p.Tyr244Cys
ENST00000555000.5:c.266A>G	ENSP00000450472.1:p.Tyr89Cys
ENST00000557316.5:c.*297A>G	ENSP00000452314.1:n.*297A>G
ENST00000622264.4:c.889A>G
NM_000153.3:c.899A>G	NP_000144.2:p.Tyr300Cys
NM_001201401.1:c.830A>G	NP_001188330.1:p.Tyr277Cys
NM_001201402.1:c.821A>G	NP_001188331.1:p.Tyr274Cys
XM_011536618.1:c.731A>G	XP_011534920.1:p.Tyr244Cys
XM_011536618.2:c.731A>G	XP_011534920.1:p.Tyr244Cys
NM_000153.4:c.899A>G MANE Select	NP_000144.2:p.Tyr300Cys
NM_001201401.2:c.830A>G	NP_001188330.1:p.Tyr277Cys
NM_001201402.2:c.821A>G	NP_001188331.1:p.Tyr274Cys