Canonical Allele Identifier: CA390749728

Gene: GALC

Linked Data

• gnomAD v4: 14-87976469-T-C
• MyVariant Identifiers: chr14:g.88442813T>C (hg19) ; chr14:g.87976469T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87976469T>C , CM000676.2:g.87976469T>C	GRCh38
NC_000014.8:g.88442813T>C , CM000676.1:g.88442813T>C	GRCh37
NC_000014.7:g.87512566T>C	NCBI36
NG_011853.2:g.22095A>G
NG_011853.3:g.22095A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.641A>G MANE Select	ENSP00000261304.2:p.Asn214Ser
ENST00000261304.6:c.641A>G	ENSP00000261304.2:p.Asn214Ser
ENST00000393568.8:c.572A>G	ENSP00000377198.4:p.Asn191Ser
ENST00000393569.6:c.563A>G	ENSP00000377199.2:p.Asn188Ser
ENST00000474294.6:n.631A>G
ENST00000477716.3:n.396A>G
ENST00000544807.6:c.473A>G	ENSP00000437513.2:p.Asn158Ser
ENST00000554916.5:n.520A>G
ENST00000555000.5:c.8A>G	ENSP00000450472.1:p.Asn3Ser
ENST00000557316.5:c.*39A>G	ENSP00000452314.1:n.*39A>G
ENST00000622264.4:c.631A>G
NM_000153.3:c.641A>G	NP_000144.2:p.Asn214Ser
NM_001201401.1:c.572A>G	NP_001188330.1:p.Asn191Ser
NM_001201402.1:c.563A>G	NP_001188331.1:p.Asn188Ser
XM_011536618.1:c.473A>G	XP_011534920.1:p.Asn158Ser
XM_011536618.2:c.473A>G	XP_011534920.1:p.Asn158Ser
NM_000153.4:c.641A>G MANE Select	NP_000144.2:p.Asn214Ser
NM_001201401.2:c.572A>G	NP_001188330.1:p.Asn191Ser
NM_001201402.2:c.563A>G	NP_001188331.1:p.Asn188Ser