Canonical Allele Identifier: CA390751777

Gene: GALC

Linked Data

• MyVariant Identifiers: chr14:g.88450830G>A (hg19) ; chr14:g.87984486G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87984486G>A , CM000676.2:g.87984486G>A	GRCh38
NC_000014.8:g.88450830G>A , CM000676.1:g.88450830G>A	GRCh37
NC_000014.7:g.87520583G>A	NCBI36
NG_011853.2:g.14078C>T
NG_011853.3:g.14078C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.490C>T MANE Select	ENSP00000261304.2:p.Pro164Ser
ENST00000261304.6:c.490C>T	ENSP00000261304.2:p.Pro164Ser
ENST00000393568.8:c.421C>T	ENSP00000377198.4:p.Pro141Ser
ENST00000393569.6:c.412C>T	ENSP00000377199.2:p.Pro138Ser
ENST00000474294.6:n.480C>T
ENST00000544807.6:c.322C>T	ENSP00000437513.2:p.Pro108Ser
ENST00000554372.5:c.*239C>T	ENSP00000451884.1:n.*239C>T
ENST00000554916.5:n.369C>T
ENST00000556261.5:n.191C>T
ENST00000556879.5:c.550C>T	ENSP00000452208.1:n.550C>T
ENST00000557316.5:c.490C>T	ENSP00000452314.1:p.Pro164Ser
ENST00000622264.4:c.480C>T
NM_000153.3:c.490C>T	NP_000144.2:p.Pro164Ser
NM_001201401.1:c.421C>T	NP_001188330.1:p.Pro141Ser
NM_001201402.1:c.412C>T	NP_001188331.1:p.Pro138Ser
XM_011536618.1:c.322C>T	XP_011534920.1:p.Pro108Ser
XM_011536618.2:c.322C>T	XP_011534920.1:p.Pro108Ser
NM_000153.4:c.490C>T MANE Select	NP_000144.2:p.Pro164Ser
NM_001201401.2:c.421C>T	NP_001188330.1:p.Pro141Ser
NM_001201402.2:c.412C>T	NP_001188331.1:p.Pro138Ser