Canonical Allele Identifier: CA390746616

Gene: GALC

Linked Data

• MyVariant Identifiers: chr14:g.88414191C>G (hg19) ; chr14:g.87947847C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87947847C>G , CM000676.2:g.87947847C>G	GRCh38
NC_000014.8:g.88414191C>G , CM000676.1:g.88414191C>G	GRCh37
NC_000014.7:g.87483944C>G	NCBI36
NG_011853.2:g.50717G>C
NG_011853.3:g.50717G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000261304.7:c.1370G>C MANE Select	ENSP00000261304.2:p.Ser457Thr
ENST00000261304.6:c.1370G>C	ENSP00000261304.2:p.Ser457Thr
ENST00000393568.8:c.1301G>C	ENSP00000377198.4:p.Ser434Thr
ENST00000393569.6:c.1292G>C	ENSP00000377199.2:p.Ser431Thr
ENST00000544807.6:c.1202G>C	ENSP00000437513.2:p.Ser401Thr
ENST00000555000.5:c.737G>C	ENSP00000450472.1:p.Ser246Thr
ENST00000555179.1:c.87G>C
ENST00000557316.5:c.*768G>C	ENSP00000452314.1:n.*768G>C
NM_000153.3:c.1370G>C	NP_000144.2:p.Ser457Thr
NM_001201401.1:c.1301G>C	NP_001188330.1:p.Ser434Thr
NM_001201402.1:c.1292G>C	NP_001188331.1:p.Ser431Thr
XM_011536618.1:c.1202G>C	XP_011534920.1:p.Ser401Thr
XM_011536618.2:c.1202G>C	XP_011534920.1:p.Ser401Thr
NM_000153.4:c.1370G>C MANE Select	NP_000144.2:p.Ser457Thr
NM_001201401.2:c.1301G>C	NP_001188330.1:p.Ser434Thr
NM_001201402.2:c.1292G>C	NP_001188331.1:p.Ser431Thr