Canonical Allele Identifier: CA390750803

Gene: GALC

Linked Data

• MyVariant Identifiers: chr14:g.88448569A>C (hg19) ; chr14:g.87982225A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87982225A>C , CM000676.2:g.87982225A>C	GRCh38
NC_000014.8:g.88448569A>C , CM000676.1:g.88448569A>C	GRCh37
NC_000014.7:g.87518322A>C	NCBI36
NG_011853.2:g.16339T>G
NG_011853.3:g.16339T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.601T>G MANE Select	ENSP00000261304.2:p.Tyr201Asp
ENST00000261304.6:c.601T>G	ENSP00000261304.2:p.Tyr201Asp
ENST00000393568.8:c.532T>G	ENSP00000377198.4:p.Tyr178Asp
ENST00000393569.6:c.523T>G	ENSP00000377199.2:p.Tyr175Asp
ENST00000474294.6:n.591T>G
ENST00000544807.6:c.433T>G	ENSP00000437513.2:p.Tyr145Asp
ENST00000554372.5:c.*350T>G	ENSP00000451884.1:n.*350T>G
ENST00000554916.5:n.480T>G
ENST00000556261.5:n.302T>G
ENST00000557316.5:c.601T>G	ENSP00000452314.1:p.Tyr201Asp
ENST00000622264.4:c.591T>G
NM_000153.3:c.601T>G	NP_000144.2:p.Tyr201Asp
NM_001201401.1:c.532T>G	NP_001188330.1:p.Tyr178Asp
NM_001201402.1:c.523T>G	NP_001188331.1:p.Tyr175Asp
XM_011536618.1:c.433T>G	XP_011534920.1:p.Tyr145Asp
XM_011536618.2:c.433T>G	XP_011534920.1:p.Tyr145Asp
NM_000153.4:c.601T>G MANE Select	NP_000144.2:p.Tyr201Asp
NM_001201401.2:c.532T>G	NP_001188330.1:p.Tyr178Asp
NM_001201402.2:c.523T>G	NP_001188331.1:p.Tyr175Asp