Canonical Allele Identifier: CA390749380

Gene: GALC

Linked Data

• MyVariant Identifiers: chr14:g.88442733C>G (hg19) ; chr14:g.87976389C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87976389C>G , CM000676.2:g.87976389C>G	GRCh38
NC_000014.8:g.88442733C>G , CM000676.1:g.88442733C>G	GRCh37
NC_000014.7:g.87512486C>G	NCBI36
NG_011853.2:g.22175G>C
NG_011853.3:g.22175G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000261304.7:c.721G>C MANE Select	ENSP00000261304.2:p.Ala241Pro
ENST00000261304.6:c.721G>C	ENSP00000261304.2:p.Ala241Pro
ENST00000393568.8:c.652G>C	ENSP00000377198.4:p.Ala218Pro
ENST00000393569.6:c.643G>C	ENSP00000377199.2:p.Ala215Pro
ENST00000474294.6:n.711G>C
ENST00000477716.3:n.476G>C
ENST00000544807.6:c.553G>C	ENSP00000437513.2:p.Ala185Pro
ENST00000554916.5:n.600G>C
ENST00000555000.5:c.88G>C	ENSP00000450472.1:p.Ala30Pro
ENST00000557316.5:c.*119G>C	ENSP00000452314.1:n.*119G>C
ENST00000622264.4:c.711G>C
NM_000153.3:c.721G>C	NP_000144.2:p.Ala241Pro
NM_001201401.1:c.652G>C	NP_001188330.1:p.Ala218Pro
NM_001201402.1:c.643G>C	NP_001188331.1:p.Ala215Pro
XM_011536618.1:c.553G>C	XP_011534920.1:p.Ala185Pro
XM_011536618.2:c.553G>C	XP_011534920.1:p.Ala185Pro
NM_000153.4:c.721G>C MANE Select	NP_000144.2:p.Ala241Pro
NM_001201401.2:c.652G>C	NP_001188330.1:p.Ala218Pro
NM_001201402.2:c.643G>C	NP_001188331.1:p.Ala215Pro