Canonical Allele Identifier: CA390745949

Gene: GALC

Linked Data

• MyVariant Identifiers: chr14:g.88411899G>C (hg19) ; chr14:g.87945555G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87945555G>C , CM000676.2:g.87945555G>C	GRCh38
NC_000014.8:g.88411899G>C , CM000676.1:g.88411899G>C	GRCh37
NC_000014.7:g.87481652G>C	NCBI36
NG_011853.2:g.53009C>G
NG_011853.3:g.53009C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.1668C>G MANE Select	ENSP00000261304.2:p.Asn556Lys
ENST00000261304.6:c.1668C>G	ENSP00000261304.2:p.Asn556Lys
ENST00000393568.8:c.1599C>G	ENSP00000377198.4:p.Asn533Lys
ENST00000393569.6:c.1590C>G	ENSP00000377199.2:p.Asn530Lys
ENST00000544807.6:c.1500C>G	ENSP00000437513.2:p.Asn500Lys
ENST00000555000.5:c.1035C>G	ENSP00000450472.1:p.Asn345Lys
ENST00000555179.1:c.206+2173C>G
ENST00000557316.5:c.*1066C>G	ENSP00000452314.1:n.*1066C>G
NM_000153.3:c.1668C>G	NP_000144.2:p.Asn556Lys
NM_001201401.1:c.1599C>G	NP_001188330.1:p.Asn533Lys
NM_001201402.1:c.1590C>G	NP_001188331.1:p.Asn530Lys
XM_011536618.1:c.1500C>G	XP_011534920.1:p.Asn500Lys
XM_011536618.2:c.1500C>G	XP_011534920.1:p.Asn500Lys
NM_000153.4:c.1668C>G MANE Select	NP_000144.2:p.Asn556Lys
NM_001201401.2:c.1599C>G	NP_001188330.1:p.Asn533Lys
NM_001201402.2:c.1590C>G	NP_001188331.1:p.Asn530Lys