Canonical Allele Identifier: CA390749647

Gene: GALC

Linked Data

• MyVariant Identifiers: chr14:g.88442795C>G (hg19) ; chr14:g.87976451C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87976451C>G , CM000676.2:g.87976451C>G	GRCh38
NC_000014.8:g.88442795C>G , CM000676.1:g.88442795C>G	GRCh37
NC_000014.7:g.87512548C>G	NCBI36
NG_011853.2:g.22113G>C
NG_011853.3:g.22113G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.659G>C MANE Select	ENSP00000261304.2:p.Arg220Pro
ENST00000261304.6:c.659G>C	ENSP00000261304.2:p.Arg220Pro
ENST00000393568.8:c.590G>C	ENSP00000377198.4:p.Arg197Pro
ENST00000393569.6:c.581G>C	ENSP00000377199.2:p.Arg194Pro
ENST00000474294.6:n.649G>C
ENST00000477716.3:n.414G>C
ENST00000544807.6:c.491G>C	ENSP00000437513.2:p.Arg164Pro
ENST00000554916.5:n.538G>C
ENST00000555000.5:c.26G>C	ENSP00000450472.1:p.Arg9Pro
ENST00000557316.5:c.*57G>C	ENSP00000452314.1:n.*57G>C
ENST00000622264.4:c.649G>C
NM_000153.3:c.659G>C	NP_000144.2:p.Arg220Pro
NM_001201401.1:c.590G>C	NP_001188330.1:p.Arg197Pro
NM_001201402.1:c.581G>C	NP_001188331.1:p.Arg194Pro
XM_011536618.1:c.491G>C	XP_011534920.1:p.Arg164Pro
XM_011536618.2:c.491G>C	XP_011534920.1:p.Arg164Pro
NM_000153.4:c.659G>C MANE Select	NP_000144.2:p.Arg220Pro
NM_001201401.2:c.590G>C	NP_001188330.1:p.Arg197Pro
NM_001201402.2:c.581G>C	NP_001188331.1:p.Arg194Pro