Canonical Allele Identifier: CA390747687

Gene: GALC

Linked Data

• MyVariant Identifiers: chr14:g.88434682G>T (hg19) ; chr14:g.87968338G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87968338G>T , CM000676.2:g.87968338G>T	GRCh38
NC_000014.8:g.88434682G>T , CM000676.1:g.88434682G>T	GRCh37
NC_000014.7:g.87504435G>T	NCBI36
NG_011853.2:g.30226C>A
NG_011853.3:g.30226C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.905C>A MANE Select	ENSP00000261304.2:p.Thr302Asn
ENST00000261304.6:c.905C>A	ENSP00000261304.2:p.Thr302Asn
ENST00000393568.8:c.836C>A	ENSP00000377198.4:p.Thr279Asn
ENST00000393569.6:c.827C>A	ENSP00000377199.2:p.Thr276Asn
ENST00000474294.6:n.895C>A
ENST00000544807.6:c.737C>A	ENSP00000437513.2:p.Thr246Asn
ENST00000555000.5:c.272C>A	ENSP00000450472.1:p.Thr91Asn
ENST00000557316.5:c.*303C>A	ENSP00000452314.1:n.*303C>A
ENST00000622264.4:c.895C>A
NM_000153.3:c.905C>A	NP_000144.2:p.Thr302Asn
NM_001201401.1:c.836C>A	NP_001188330.1:p.Thr279Asn
NM_001201402.1:c.827C>A	NP_001188331.1:p.Thr276Asn
XM_011536618.1:c.737C>A	XP_011534920.1:p.Thr246Asn
XM_011536618.2:c.737C>A	XP_011534920.1:p.Thr246Asn
NM_000153.4:c.905C>A MANE Select	NP_000144.2:p.Thr302Asn
NM_001201401.2:c.836C>A	NP_001188330.1:p.Thr279Asn
NM_001201402.2:c.827C>A	NP_001188331.1:p.Thr276Asn