Canonical Allele Identifier: CA390749445

Gene: GALC

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.706T>G MANE Select	ENSP00000261304.2:p.Ser236Ala
ENST00000261304.6:c.706T>G	ENSP00000261304.2:p.Ser236Ala
ENST00000393568.8:c.637T>G	ENSP00000377198.4:p.Ser213Ala
ENST00000393569.6:c.628T>G	ENSP00000377199.2:p.Ser210Ala
ENST00000474294.6:n.696T>G
ENST00000477716.3:n.461T>G
ENST00000544807.6:c.538T>G	ENSP00000437513.2:p.Ser180Ala
ENST00000554916.5:n.585T>G
ENST00000555000.5:c.73T>G	ENSP00000450472.1:p.Ser25Ala
ENST00000557316.5:c.*104T>G	ENSP00000452314.1:n.*104T>G
ENST00000622264.4:c.696T>G
NM_000153.3:c.706T>G	NP_000144.2:p.Ser236Ala
NM_001201401.1:c.637T>G	NP_001188330.1:p.Ser213Ala
NM_001201402.1:c.628T>G	NP_001188331.1:p.Ser210Ala
XM_011536618.1:c.538T>G	XP_011534920.1:p.Ser180Ala
XM_011536618.2:c.538T>G	XP_011534920.1:p.Ser180Ala
NM_000153.4:c.706T>G MANE Select	NP_000144.2:p.Ser236Ala
NM_001201401.2:c.637T>G	NP_001188330.1:p.Ser213Ala
NM_001201402.2:c.628T>G	NP_001188331.1:p.Ser210Ala