Canonical Allele Identifier: CA2616491590

Gene: SC5D

Linked Data

• gnomAD v4: 11-121306954-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121306954C>A , CM000673.2:g.121306954C>A	GRCh38
NC_000011.9:g.121177663C>A , CM000673.1:g.121177663C>A	GRCh37
NC_000011.8:g.120682873C>A	NCBI36
NG_009446.1:g.19276C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264027.9:c.445-103C>A MANE Select	ENSP00000264027.4:n.445-103C>A
ENST00000264027.8:c.445-103C>A	ENSP00000264027.4:n.445-103C>A
ENST00000392789.2:c.445-103C>A	ENSP00000376539.2:n.445-103C>A
ENST00000527183.1:n.738-103C>A
ENST00000527762.5:c.466-103C>A	ENSP00000436290.1:n.466-103C>A
ENST00000528991.1:n.138-103C>A
ENST00000534230.5:c.445-103C>A	ENSP00000432550.1:n.445-103C>A
NM_001024956.2:c.445-103C>A	NP_001020127.1:n.445-103C>A
NM_006918.4:c.445-103C>A	NP_008849.2:n.445-103C>A
NM_006918.5:c.445-103C>A MANE Select	NP_008849.2:n.445-103C>A
NM_001024956.3:c.445-103C>A	NP_001020127.1:n.445-103C>A