Canonical Allele Identifier: CA390750850

Gene: GALC

Linked Data

• gnomAD v4: 14-87982235-A-C
• MyVariant Identifiers: chr14:g.88448579A>C (hg19) ; chr14:g.87982235A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87982235A>C , CM000676.2:g.87982235A>C	GRCh38
NC_000014.8:g.88448579A>C , CM000676.1:g.88448579A>C	GRCh37
NC_000014.7:g.87518332A>C	NCBI36
NG_011853.2:g.16329T>G
NG_011853.3:g.16329T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.591T>G MANE Select	ENSP00000261304.2:p.Asn197Lys
ENST00000261304.6:c.591T>G	ENSP00000261304.2:p.Asn197Lys
ENST00000393568.8:c.522T>G	ENSP00000377198.4:p.Asn174Lys
ENST00000393569.6:c.513T>G	ENSP00000377199.2:p.Asn171Lys
ENST00000474294.6:n.581T>G
ENST00000544807.6:c.423T>G	ENSP00000437513.2:p.Asn141Lys
ENST00000554372.5:c.*340T>G	ENSP00000451884.1:n.*340T>G
ENST00000554916.5:n.470T>G
ENST00000556261.5:n.292T>G
ENST00000557316.5:c.591T>G	ENSP00000452314.1:p.Asn197Lys
ENST00000622264.4:c.581T>G
NM_000153.3:c.591T>G	NP_000144.2:p.Asn197Lys
NM_001201401.1:c.522T>G	NP_001188330.1:p.Asn174Lys
NM_001201402.1:c.513T>G	NP_001188331.1:p.Asn171Lys
XM_011536618.1:c.423T>G	XP_011534920.1:p.Asn141Lys
XM_011536618.2:c.423T>G	XP_011534920.1:p.Asn141Lys
NM_000153.4:c.591T>G MANE Select	NP_000144.2:p.Asn197Lys
NM_001201401.2:c.522T>G	NP_001188330.1:p.Asn174Lys
NM_001201402.2:c.513T>G	NP_001188331.1:p.Asn171Lys