Canonical Allele Identifier: CA390749443

Gene: GALC

Linked Data

• MyVariant Identifiers: chr14:g.88442748A>T (hg19) ; chr14:g.87976404A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87976404A>T , CM000676.2:g.87976404A>T	GRCh38
NC_000014.8:g.88442748A>T , CM000676.1:g.88442748A>T	GRCh37
NC_000014.7:g.87512501A>T	NCBI36
NG_011853.2:g.22160T>A
NG_011853.3:g.22160T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.706T>A MANE Select	ENSP00000261304.2:p.Ser236Thr
ENST00000261304.6:c.706T>A	ENSP00000261304.2:p.Ser236Thr
ENST00000393568.8:c.637T>A	ENSP00000377198.4:p.Ser213Thr
ENST00000393569.6:c.628T>A	ENSP00000377199.2:p.Ser210Thr
ENST00000474294.6:n.696T>A
ENST00000477716.3:n.461T>A
ENST00000544807.6:c.538T>A	ENSP00000437513.2:p.Ser180Thr
ENST00000554916.5:n.585T>A
ENST00000555000.5:c.73T>A	ENSP00000450472.1:p.Ser25Thr
ENST00000557316.5:c.*104T>A	ENSP00000452314.1:n.*104T>A
ENST00000622264.4:c.696T>A
NM_000153.3:c.706T>A	NP_000144.2:p.Ser236Thr
NM_001201401.1:c.637T>A	NP_001188330.1:p.Ser213Thr
NM_001201402.1:c.628T>A	NP_001188331.1:p.Ser210Thr
XM_011536618.1:c.538T>A	XP_011534920.1:p.Ser180Thr
XM_011536618.2:c.538T>A	XP_011534920.1:p.Ser180Thr
NM_000153.4:c.706T>A MANE Select	NP_000144.2:p.Ser236Thr
NM_001201401.2:c.637T>A	NP_001188330.1:p.Ser213Thr
NM_001201402.2:c.628T>A	NP_001188331.1:p.Ser210Thr