Canonical Allele Identifier: CA2543466958

Gene: GALC

Linked Data

• gnomAD v4: 14-87976529-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87976529G>T , CM000676.2:g.87976529G>T	GRCh38
NC_000014.8:g.88442873G>T , CM000676.1:g.88442873G>T	GRCh37
NC_000014.7:g.87512626G>T	NCBI36
NG_011853.2:g.22035C>A
NG_011853.3:g.22035C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261304.7:c.622-41C>A MANE Select	ENSP00000261304.2:n.622-41C>A
ENST00000261304.6:c.622-41C>A	ENSP00000261304.2:n.622-41C>A
ENST00000393568.8:c.553-41C>A	ENSP00000377198.4:n.553-41C>A
ENST00000393569.6:c.544-41C>A	ENSP00000377199.2:n.544-41C>A
ENST00000474294.6:n.612-41C>A
ENST00000477716.3:n.336C>A
ENST00000544807.6:c.454-41C>A	ENSP00000437513.2:n.454-41C>A
ENST00000554916.5:n.501-41C>A
ENST00000555000.5:c.-12-41C>A	ENSP00000450472.1:n.-12-41C>A
ENST00000557316.5:c.*20-41C>A	ENSP00000452314.1:n.*20-41C>A
ENST00000622264.4:c.612-41C>A
NM_000153.3:c.622-41C>A	NP_000144.2:n.622-41C>A
NM_001201401.1:c.553-41C>A	NP_001188330.1:n.553-41C>A
NM_001201402.1:c.544-41C>A	NP_001188331.1:n.544-41C>A
XM_011536618.1:c.454-41C>A	XP_011534920.1:n.454-41C>A
XM_011536618.2:c.454-41C>A	XP_011534920.1:n.454-41C>A
NM_000153.4:c.622-41C>A MANE Select	NP_000144.2:n.622-41C>A
NM_001201401.2:c.553-41C>A	NP_001188330.1:n.553-41C>A
NM_001201402.2:c.544-41C>A	NP_001188331.1:n.544-41C>A