Canonical Allele Identifier: CA7297346

Gene: GALC

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.87984492C>T , CM000676.2:g.87984492C>T	GRCh38
NC_000014.8:g.88450836C>T , CM000676.1:g.88450836C>T	GRCh37
NC_000014.7:g.87520589C>T	NCBI36
NG_011853.2:g.14072G>A
NG_011853.3:g.14072G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000153.4:c.484G>A MANE Select	NP_000144.2:p.Asp162Asn
ENST00000261304.7:c.484G>A MANE Select	ENSP00000261304.2:p.Asp162Asn
NM_000153.3:c.484G>A	NP_000144.2:p.Asp162Asn
NM_001201401.1:c.415G>A	NP_001188330.1:p.Asp139Asn
NM_001201401.2:c.415G>A	NP_001188330.1:p.Asp139Asn
NM_001201402.1:c.406G>A	NP_001188331.1:p.Asp136Asn
NM_001201402.2:c.406G>A	NP_001188331.1:p.Asp136Asn
ENST00000261304.6:c.484G>A	ENSP00000261304.2:p.Asp162Asn
ENST00000393568.8:c.415G>A	ENSP00000377198.4:p.Asp139Asn
ENST00000393569.6:c.406G>A	ENSP00000377199.2:p.Asp136Asn
ENST00000474294.6:n.474G>A
ENST00000544807.6:c.316G>A	ENSP00000437513.2:p.Asp106Asn
ENST00000554372.5:c.*233G>A	ENSP00000451884.1:n.*233G>A
ENST00000554916.5:n.363G>A
ENST00000556261.5:n.185G>A
ENST00000556879.5:c.544G>A	ENSP00000452208.1:n.544G>A
ENST00000557316.5:c.484G>A	ENSP00000452314.1:p.Asp162Asn
ENST00000622264.4:c.474G>A
XM_011536618.1:c.316G>A	XP_011534920.1:p.Asp106Asn
XM_011536618.2:c.316G>A	XP_011534920.1:p.Asp106Asn