Canonical Allele Identifier: CA2625980090

Gene: GALC

Linked Data

• gnomAD v4: 14-87965499-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87965499C>T , CM000676.2:g.87965499C>T	GRCh38
NC_000014.8:g.88431843C>T , CM000676.1:g.88431843C>T	GRCh37
NC_000014.7:g.87501596C>T	NCBI36
NG_011853.2:g.33065G>A
NG_011853.3:g.33065G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000261304.7:c.1033+6G>A MANE Select	ENSP00000261304.2:n.1033+6G>A
ENST00000261304.6:c.1033+6G>A	ENSP00000261304.2:n.1033+6G>A
ENST00000393568.8:c.964+6G>A	ENSP00000377198.4:n.964+6G>A
ENST00000393569.6:c.955+6G>A	ENSP00000377199.2:n.955+6G>A
ENST00000474294.6:n.1023+6G>A
ENST00000544807.6:c.865+6G>A	ENSP00000437513.2:n.865+6G>A
ENST00000555000.5:c.400+6G>A	ENSP00000450472.1:n.400+6G>A
ENST00000557316.5:c.*431+6G>A	ENSP00000452314.1:n.*431+6G>A
ENST00000557520.1:n.119+6G>A
ENST00000622264.4:c.1023+6G>A
NM_000153.3:c.1033+6G>A	NP_000144.2:n.1033+6G>A
NM_001201401.1:c.964+6G>A	NP_001188330.1:n.964+6G>A
NM_001201402.1:c.955+6G>A	NP_001188331.1:n.955+6G>A
XM_011536618.1:c.865+6G>A	XP_011534920.1:n.865+6G>A
XM_011536618.2:c.865+6G>A	XP_011534920.1:n.865+6G>A
NM_000153.4:c.1033+6G>A MANE Select	NP_000144.2:n.1033+6G>A
NM_001201401.2:c.964+6G>A	NP_001188330.1:n.964+6G>A
NM_001201402.2:c.955+6G>A	NP_001188331.1:n.955+6G>A