Canonical Allele Identifier: CA390745997

Gene: GALC

Linked Data

• MyVariant Identifiers: chr14:g.88411919T>A (hg19) ; chr14:g.87945575T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87945575T>A , CM000676.2:g.87945575T>A	GRCh38
NC_000014.8:g.88411919T>A , CM000676.1:g.88411919T>A	GRCh37
NC_000014.7:g.87481672T>A	NCBI36
NG_011853.2:g.52989A>T
NG_011853.3:g.52989A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000261304.7:c.1648A>T MANE Select	ENSP00000261304.2:p.Ser550Cys
ENST00000261304.6:c.1648A>T	ENSP00000261304.2:p.Ser550Cys
ENST00000393568.8:c.1579A>T	ENSP00000377198.4:p.Ser527Cys
ENST00000393569.6:c.1570A>T	ENSP00000377199.2:p.Ser524Cys
ENST00000544807.6:c.1480A>T	ENSP00000437513.2:p.Ser494Cys
ENST00000555000.5:c.1015A>T	ENSP00000450472.1:p.Ser339Cys
ENST00000555179.1:c.206+2153A>T
ENST00000557316.5:c.*1046A>T	ENSP00000452314.1:n.*1046A>T
NM_000153.3:c.1648A>T	NP_000144.2:p.Ser550Cys
NM_001201401.1:c.1579A>T	NP_001188330.1:p.Ser527Cys
NM_001201402.1:c.1570A>T	NP_001188331.1:p.Ser524Cys
XM_011536618.1:c.1480A>T	XP_011534920.1:p.Ser494Cys
XM_011536618.2:c.1480A>T	XP_011534920.1:p.Ser494Cys
NM_000153.4:c.1648A>T MANE Select	NP_000144.2:p.Ser550Cys
NM_001201401.2:c.1579A>T	NP_001188330.1:p.Ser527Cys
NM_001201402.2:c.1570A>T	NP_001188331.1:p.Ser524Cys