Canonical Allele Identifier: CA390747912

Gene: GALC

Linked Data

• MyVariant Identifiers: chr14:g.88434747A>C (hg19) ; chr14:g.87968403A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87968403A>C , CM000676.2:g.87968403A>C	GRCh38
NC_000014.8:g.88434747A>C , CM000676.1:g.88434747A>C	GRCh37
NC_000014.7:g.87504500A>C	NCBI36
NG_011853.2:g.30161T>G
NG_011853.3:g.30161T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.840T>G MANE Select	ENSP00000261304.2:p.Asn280Lys
ENST00000261304.6:c.840T>G	ENSP00000261304.2:p.Asn280Lys
ENST00000393568.8:c.771T>G	ENSP00000377198.4:p.Asn257Lys
ENST00000393569.6:c.762T>G	ENSP00000377199.2:p.Asn254Lys
ENST00000474294.6:n.830T>G
ENST00000477716.3:n.595T>G
ENST00000544807.6:c.672T>G	ENSP00000437513.2:p.Asn224Lys
ENST00000555000.5:c.207T>G	ENSP00000450472.1:p.Asn69Lys
ENST00000557316.5:c.*238T>G	ENSP00000452314.1:n.*238T>G
ENST00000622264.4:c.830T>G
NM_000153.3:c.840T>G	NP_000144.2:p.Asn280Lys
NM_001201401.1:c.771T>G	NP_001188330.1:p.Asn257Lys
NM_001201402.1:c.762T>G	NP_001188331.1:p.Asn254Lys
XM_011536618.1:c.672T>G	XP_011534920.1:p.Asn224Lys
XM_011536618.2:c.672T>G	XP_011534920.1:p.Asn224Lys
NM_000153.4:c.840T>G MANE Select	NP_000144.2:p.Asn280Lys
NM_001201401.2:c.771T>G	NP_001188330.1:p.Asn257Lys
NM_001201402.2:c.762T>G	NP_001188331.1:p.Asn254Lys