Canonical Allele Identifier: CA2564370032

Gene: SC5D

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121303346C>A , CM000673.2:g.121303346C>A	GRCh38
NC_000011.9:g.121174055C>A , CM000673.1:g.121174055C>A	GRCh37
NC_000011.8:g.120679265C>A	NCBI36
NG_009446.1:g.15668C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264027.9:c.-10-20C>A MANE Select	ENSP00000264027.4:n.-10-20C>A
ENST00000264027.8:c.-10-20C>A	ENSP00000264027.4:n.-10-20C>A
ENST00000392789.2:c.-10-20C>A	ENSP00000376539.2:n.-10-20C>A
ENST00000524683.5:n.47-20C>A
ENST00000527762.5:c.-10-20C>A	ENSP00000436290.1:n.-10-20C>A
ENST00000531140.1:n.59-20C>A
ENST00000534230.5:c.-10-20C>A	ENSP00000432550.1:n.-10-20C>A
ENST00000534455.5:n.137-20C>A
NM_001024956.2:c.-10-20C>A	NP_001020127.1:n.-10-20C>A
NM_006918.4:c.-10-20C>A	NP_008849.2:n.-10-20C>A
NM_006918.5:c.-10-20C>A MANE Select	NP_008849.2:n.-10-20C>A
NM_001024956.3:c.-10-20C>A	NP_001020127.1:n.-10-20C>A