Canonical Allele Identifier: CA264703769

Gene: GALC

Linked Data

• dbSNP Id: rs1028665503
• gnomAD v2: 14-88434552-G-A
• gnomAD v3: 14-87968208-G-A
• gnomAD v4: 14-87968208-G-A
• MyVariant Identifiers: chr14:g.88434552G>A (hg19) ; chr14:g.87968208G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87968208G>A , CM000676.2:g.87968208G>A	GRCh38
NC_000014.8:g.88434552G>A , CM000676.1:g.88434552G>A	GRCh37
NC_000014.7:g.87504305G>A	NCBI36
NG_011853.2:g.30356C>T
NG_011853.3:g.30356C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.908+127C>T MANE Select	ENSP00000261304.2:n.908+127C>T
ENST00000261304.6:c.908+127C>T	ENSP00000261304.2:n.908+127C>T
ENST00000393568.8:c.839+127C>T	ENSP00000377198.4:n.839+127C>T
ENST00000393569.6:c.830+127C>T	ENSP00000377199.2:n.830+127C>T
ENST00000474294.6:n.898+127C>T
ENST00000544807.6:c.740+127C>T	ENSP00000437513.2:n.740+127C>T
ENST00000555000.5:c.275+127C>T	ENSP00000450472.1:n.275+127C>T
ENST00000557316.5:c.*306+127C>T	ENSP00000452314.1:n.*306+127C>T
ENST00000622264.4:c.898+127C>T
NM_000153.3:c.908+127C>T	NP_000144.2:n.908+127C>T
NM_001201401.1:c.839+127C>T	NP_001188330.1:n.839+127C>T
NM_001201402.1:c.830+127C>T	NP_001188331.1:n.830+127C>T
XM_011536618.1:c.740+127C>T	XP_011534920.1:n.740+127C>T
XM_011536618.2:c.740+127C>T	XP_011534920.1:n.740+127C>T
NM_000153.4:c.908+127C>T MANE Select	NP_000144.2:n.908+127C>T
NM_001201401.2:c.839+127C>T	NP_001188330.1:n.839+127C>T
NM_001201402.2:c.830+127C>T	NP_001188331.1:n.830+127C>T