Canonical Allele Identifier: CA390747139

Gene: GALC

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87963394A>T , CM000676.2:g.87963394A>T	GRCh38
NC_000014.8:g.88429738A>T , CM000676.1:g.88429738A>T	GRCh37
NC_000014.7:g.87499491A>T	NCBI36
NG_011853.2:g.35170T>A
NG_011853.3:g.35170T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000153.4:c.1151T>A MANE Select	NP_000144.2:p.Ile384Asn
ENST00000261304.7:c.1151T>A MANE Select	ENSP00000261304.2:p.Ile384Asn
NM_000153.3:c.1151T>A	NP_000144.2:p.Ile384Asn
NM_001201401.1:c.1082T>A	NP_001188330.1:p.Ile361Asn
NM_001201401.2:c.1082T>A	NP_001188330.1:p.Ile361Asn
NM_001201402.1:c.1073T>A	NP_001188331.1:p.Ile358Asn
NM_001201402.2:c.1073T>A	NP_001188331.1:p.Ile358Asn
ENST00000261304.6:c.1151T>A	ENSP00000261304.2:p.Ile384Asn
ENST00000393568.8:c.1082T>A	ENSP00000377198.4:p.Ile361Asn
ENST00000393569.6:c.1073T>A	ENSP00000377199.2:p.Ile358Asn
ENST00000474294.6:n.1141T>A
ENST00000544807.6:c.983T>A	ENSP00000437513.2:p.Ile328Asn
ENST00000555000.5:c.518T>A	ENSP00000450472.1:p.Ile173Asn
ENST00000557316.5:c.*549T>A	ENSP00000452314.1:n.*549T>A
ENST00000557520.1:n.237T>A
ENST00000622264.4:c.1141T>A
XM_011536618.1:c.983T>A	XP_011534920.1:p.Ile328Asn
XM_011536618.2:c.983T>A	XP_011534920.1:p.Ile328Asn