Canonical Allele Identifier: CA2616492258

Gene: SC5D

Linked Data

• gnomAD v4: 11-121303350-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121303350C>A , CM000673.2:g.121303350C>A	GRCh38
NC_000011.9:g.121174059C>A , CM000673.1:g.121174059C>A	GRCh37
NC_000011.8:g.120679269C>A	NCBI36
NG_009446.1:g.15672C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264027.9:c.-10-16C>A MANE Select	ENSP00000264027.4:n.-10-16C>A
ENST00000264027.8:c.-10-16C>A	ENSP00000264027.4:n.-10-16C>A
ENST00000392789.2:c.-10-16C>A	ENSP00000376539.2:n.-10-16C>A
ENST00000524683.5:n.47-16C>A
ENST00000527762.5:c.-10-16C>A	ENSP00000436290.1:n.-10-16C>A
ENST00000531140.1:n.59-16C>A
ENST00000534230.5:c.-10-16C>A	ENSP00000432550.1:n.-10-16C>A
ENST00000534455.5:n.137-16C>A
NM_001024956.2:c.-10-16C>A	NP_001020127.1:n.-10-16C>A
NM_006918.4:c.-10-16C>A	NP_008849.2:n.-10-16C>A
NM_006918.5:c.-10-16C>A MANE Select	NP_008849.2:n.-10-16C>A
NM_001024956.3:c.-10-16C>A	NP_001020127.1:n.-10-16C>A