Canonical Allele Identifier: CA390746045

Gene: GALC

Linked Data

• MyVariant Identifiers: chr14:g.88411943C>T (hg19) ; chr14:g.87945599C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87945599C>T , CM000676.2:g.87945599C>T	GRCh38
NC_000014.8:g.88411943C>T , CM000676.1:g.88411943C>T	GRCh37
NC_000014.7:g.87481696C>T	NCBI36
NG_011853.2:g.52965G>A
NG_011853.3:g.52965G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000261304.7:c.1624G>A MANE Select	ENSP00000261304.2:p.Ala542Thr
ENST00000261304.6:c.1624G>A	ENSP00000261304.2:p.Ala542Thr
ENST00000393568.8:c.1555G>A	ENSP00000377198.4:p.Ala519Thr
ENST00000393569.6:c.1546G>A	ENSP00000377199.2:p.Ala516Thr
ENST00000544807.6:c.1456G>A	ENSP00000437513.2:p.Ala486Thr
ENST00000555000.5:c.991G>A	ENSP00000450472.1:p.Ala331Thr
ENST00000555179.1:c.206+2129G>A
ENST00000557316.5:c.*1022G>A	ENSP00000452314.1:n.*1022G>A
NM_000153.3:c.1624G>A	NP_000144.2:p.Ala542Thr
NM_001201401.1:c.1555G>A	NP_001188330.1:p.Ala519Thr
NM_001201402.1:c.1546G>A	NP_001188331.1:p.Ala516Thr
XM_011536618.1:c.1456G>A	XP_011534920.1:p.Ala486Thr
XM_011536618.2:c.1456G>A	XP_011534920.1:p.Ala486Thr
NM_000153.4:c.1624G>A MANE Select	NP_000144.2:p.Ala542Thr
NM_001201401.2:c.1555G>A	NP_001188330.1:p.Ala519Thr
NM_001201402.2:c.1546G>A	NP_001188331.1:p.Ala516Thr