Canonical Allele Identifier: CA390747571

Gene: GALC

Linked Data - Predicted Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87965585G>A , CM000676.2:g.87965585G>A	GRCh38
NC_000014.8:g.88431929G>A , CM000676.1:g.88431929G>A	GRCh37
NC_000014.7:g.87501682G>A	NCBI36
NG_011853.2:g.32979C>T
NG_011853.3:g.32979C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.953C>T MANE Select	ENSP00000261304.2:p.Pro318Leu
ENST00000261304.6:c.953C>T	ENSP00000261304.2:p.Pro318Leu
ENST00000393568.8:c.884C>T	ENSP00000377198.4:p.Pro295Leu
ENST00000393569.6:c.875C>T	ENSP00000377199.2:p.Pro292Leu
ENST00000474294.6:n.943C>T
ENST00000544807.6:c.785C>T	ENSP00000437513.2:p.Pro262Leu
ENST00000555000.5:c.320C>T	ENSP00000450472.1:p.Pro107Leu
ENST00000557316.5:c.*351C>T	ENSP00000452314.1:n.*351C>T
ENST00000557520.1:n.39C>T
ENST00000622264.4:c.943C>T
NM_000153.3:c.953C>T	NP_000144.2:p.Pro318Leu
NM_001201401.1:c.884C>T	NP_001188330.1:p.Pro295Leu
NM_001201402.1:c.875C>T	NP_001188331.1:p.Pro292Leu
XM_011536618.1:c.785C>T	XP_011534920.1:p.Pro262Leu
XM_011536618.2:c.785C>T	XP_011534920.1:p.Pro262Leu
NM_000153.4:c.953C>T MANE Select	NP_000144.2:p.Pro318Leu
NM_001201401.2:c.884C>T	NP_001188330.1:p.Pro295Leu
NM_001201402.2:c.875C>T	NP_001188331.1:p.Pro292Leu