Canonical Allele Identifier: CA390750813

Gene: GALC

Linked Data

• MyVariant Identifiers: chr14:g.88448571G>A (hg19) ; chr14:g.87982227G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87982227G>A , CM000676.2:g.87982227G>A	GRCh38
NC_000014.8:g.88448571G>A , CM000676.1:g.88448571G>A	GRCh37
NC_000014.7:g.87518324G>A	NCBI36
NG_011853.2:g.16337C>T
NG_011853.3:g.16337C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.599C>T MANE Select	ENSP00000261304.2:p.Ser200Leu
ENST00000261304.6:c.599C>T	ENSP00000261304.2:p.Ser200Leu
ENST00000393568.8:c.530C>T	ENSP00000377198.4:p.Ser177Leu
ENST00000393569.6:c.521C>T	ENSP00000377199.2:p.Ser174Leu
ENST00000474294.6:n.589C>T
ENST00000544807.6:c.431C>T	ENSP00000437513.2:p.Ser144Leu
ENST00000554372.5:c.*348C>T	ENSP00000451884.1:n.*348C>T
ENST00000554916.5:n.478C>T
ENST00000556261.5:n.300C>T
ENST00000557316.5:c.599C>T	ENSP00000452314.1:p.Ser200Leu
ENST00000622264.4:c.589C>T
NM_000153.3:c.599C>T	NP_000144.2:p.Ser200Leu
NM_001201401.1:c.530C>T	NP_001188330.1:p.Ser177Leu
NM_001201402.1:c.521C>T	NP_001188331.1:p.Ser174Leu
XM_011536618.1:c.431C>T	XP_011534920.1:p.Ser144Leu
XM_011536618.2:c.431C>T	XP_011534920.1:p.Ser144Leu
NM_000153.4:c.599C>T MANE Select	NP_000144.2:p.Ser200Leu
NM_001201401.2:c.530C>T	NP_001188330.1:p.Ser177Leu
NM_001201402.2:c.521C>T	NP_001188331.1:p.Ser174Leu