Canonical Allele Identifier: CA2625961554

Gene: GALC

Linked Data

• gnomAD v4: 14-87982149-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87982149A>G , CM000676.2:g.87982149A>G	GRCh38
NC_000014.8:g.88448493A>G , CM000676.1:g.88448493A>G	GRCh37
NC_000014.7:g.87518246A>G	NCBI36
NG_011853.2:g.16415T>C
NG_011853.3:g.16415T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000261304.7:c.621+56T>C MANE Select	ENSP00000261304.2:n.621+56T>C
ENST00000261304.6:c.621+56T>C	ENSP00000261304.2:n.621+56T>C
ENST00000393568.8:c.552+56T>C	ENSP00000377198.4:n.552+56T>C
ENST00000393569.6:c.543+56T>C	ENSP00000377199.2:n.543+56T>C
ENST00000474294.6:n.611+56T>C
ENST00000544807.6:c.453+56T>C	ENSP00000437513.2:n.453+56T>C
ENST00000554916.5:n.500+56T>C
ENST00000556261.5:n.322+56T>C
ENST00000557316.5:c.621+56T>C	ENSP00000452314.1:n.621+56T>C
ENST00000622264.4:c.611+56T>C
NM_000153.3:c.621+56T>C	NP_000144.2:n.621+56T>C
NM_001201401.1:c.552+56T>C	NP_001188330.1:n.552+56T>C
NM_001201402.1:c.543+56T>C	NP_001188331.1:n.543+56T>C
XM_011536618.1:c.453+56T>C	XP_011534920.1:n.453+56T>C
XM_011536618.2:c.453+56T>C	XP_011534920.1:n.453+56T>C
NM_000153.4:c.621+56T>C MANE Select	NP_000144.2:n.621+56T>C
NM_001201401.2:c.552+56T>C	NP_001188330.1:n.552+56T>C
NM_001201402.2:c.543+56T>C	NP_001188331.1:n.543+56T>C