Canonical Allele Identifier: CA390753435

Gene: GALC

Linked Data

• MyVariant Identifiers: chr14:g.88454855G>T (hg19) ; chr14:g.87988511G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87988511G>T , CM000676.2:g.87988511G>T	GRCh38
NC_000014.8:g.88454855G>T , CM000676.1:g.88454855G>T	GRCh37
NC_000014.7:g.87524608G>T	NCBI36
NG_011853.2:g.10053C>A
NG_011853.3:g.10053C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.208C>A MANE Select	ENSP00000261304.2:p.Leu70Ile
ENST00000261304.6:c.208C>A	ENSP00000261304.2:p.Leu70Ile
ENST00000393568.8:c.196-304C>A	ENSP00000377198.4:n.196-304C>A
ENST00000393569.6:c.130C>A	ENSP00000377199.2:p.Leu44Ile
ENST00000474294.6:n.198C>A
ENST00000544807.6:c.40C>A	ENSP00000437513.2:p.Leu14Ile
ENST00000554372.5:c.208C>A	ENSP00000451884.1:p.Leu70Ile
ENST00000554916.5:n.87C>A
ENST00000555956.1:n.13C>A
ENST00000556879.5:c.268C>A	ENSP00000452208.1:n.268C>A
ENST00000557316.5:c.208C>A	ENSP00000452314.1:p.Leu70Ile
ENST00000622264.4:c.198C>A
NM_000153.3:c.208C>A	NP_000144.2:p.Leu70Ile
NM_001201401.1:c.196-304C>A	NP_001188330.1:n.196-304C>A
NM_001201402.1:c.130C>A	NP_001188331.1:p.Leu44Ile
XM_011536618.1:c.40C>A	XP_011534920.1:p.Leu14Ile
XM_011536618.2:c.40C>A	XP_011534920.1:p.Leu14Ile
NM_000153.4:c.208C>A MANE Select	NP_000144.2:p.Leu70Ile
NM_001201401.2:c.196-304C>A	NP_001188330.1:n.196-304C>A
NM_001201402.2:c.130C>A	NP_001188331.1:p.Leu44Ile