Canonical Allele Identifier: CA2625961551

Gene: GALC

Linked Data

• gnomAD v4: 14-87982147-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87982147C>A , CM000676.2:g.87982147C>A	GRCh38
NC_000014.8:g.88448491C>A , CM000676.1:g.88448491C>A	GRCh37
NC_000014.7:g.87518244C>A	NCBI36
NG_011853.2:g.16417G>T
NG_011853.3:g.16417G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.621+58G>T MANE Select	ENSP00000261304.2:n.621+58G>T
ENST00000261304.6:c.621+58G>T	ENSP00000261304.2:n.621+58G>T
ENST00000393568.8:c.552+58G>T	ENSP00000377198.4:n.552+58G>T
ENST00000393569.6:c.543+58G>T	ENSP00000377199.2:n.543+58G>T
ENST00000474294.6:n.611+58G>T
ENST00000544807.6:c.453+58G>T	ENSP00000437513.2:n.453+58G>T
ENST00000554916.5:n.500+58G>T
ENST00000556261.5:n.322+58G>T
ENST00000557316.5:c.621+58G>T	ENSP00000452314.1:n.621+58G>T
ENST00000622264.4:c.611+58G>T
NM_000153.3:c.621+58G>T	NP_000144.2:n.621+58G>T
NM_001201401.1:c.552+58G>T	NP_001188330.1:n.552+58G>T
NM_001201402.1:c.543+58G>T	NP_001188331.1:n.543+58G>T
XM_011536618.1:c.453+58G>T	XP_011534920.1:n.453+58G>T
XM_011536618.2:c.453+58G>T	XP_011534920.1:n.453+58G>T
NM_000153.4:c.621+58G>T MANE Select	NP_000144.2:n.621+58G>T
NM_001201401.2:c.552+58G>T	NP_001188330.1:n.552+58G>T
NM_001201402.2:c.543+58G>T	NP_001188331.1:n.543+58G>T