Canonical Allele Identifier: CA2575008774
Gene: SC5D HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.121303326_121303329dup , CM000673.2:g.121303326_121303329dup GRCh38
NC_000011.9:g.121174035_121174038dup , CM000673.1:g.121174035_121174038dup GRCh37
NC_000011.8:g.120679245_120679248dup NCBI36
NG_009446.1:g.15648_15651dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000264027.9:c.-10-40_-10-37dup MANE Select ENSP00000264027.4:n.-10-40_-10-37dup
ENST00000264027.8:c.-10-40_-10-37dup ENSP00000264027.4:n.-10-40_-10-37dup
ENST00000392789.2:c.-10-40_-10-37dup ENSP00000376539.2:n.-10-40_-10-37dup
ENST00000524683.5:n.47-40_47-37dup
ENST00000527762.5:c.-10-40_-10-37dup ENSP00000436290.1:n.-10-40_-10-37dup
ENST00000531140.1:n.59-40_59-37dup
ENST00000534230.5:c.-10-40_-10-37dup ENSP00000432550.1:n.-10-40_-10-37dup
ENST00000534455.5:n.137-40_137-37dup
NM_001024956.2:c.-10-40_-10-37dup NP_001020127.1:n.-10-40_-10-37dup
NM_006918.4:c.-10-40_-10-37dup NP_008849.2:n.-10-40_-10-37dup
NM_006918.5:c.-10-40_-10-37dup MANE Select NP_008849.2:n.-10-40_-10-37dup
NM_001024956.3:c.-10-40_-10-37dup NP_001020127.1:n.-10-40_-10-37dup