Canonical Allele Identifier: CA942930320

Gene: SC5D

Linked Data

• dbSNP Id: rs1591505487
• gnomAD v3: 11-121306869-G-A
• gnomAD v4: 11-121306869-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121306869G>A , CM000673.2:g.121306869G>A	GRCh38
NC_000011.9:g.121177578G>A , CM000673.1:g.121177578G>A	GRCh37
NC_000011.8:g.120682788G>A	NCBI36
NG_009446.1:g.19191G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264027.9:c.445-188G>A MANE Select	ENSP00000264027.4:n.445-188G>A
ENST00000264027.8:c.445-188G>A	ENSP00000264027.4:n.445-188G>A
ENST00000392789.2:c.445-188G>A	ENSP00000376539.2:n.445-188G>A
ENST00000527183.1:n.738-188G>A
ENST00000527762.5:c.466-188G>A	ENSP00000436290.1:n.466-188G>A
ENST00000528991.1:n.138-188G>A
ENST00000534230.5:c.445-188G>A	ENSP00000432550.1:n.445-188G>A
NM_001024956.2:c.445-188G>A	NP_001020127.1:n.445-188G>A
NM_006918.4:c.445-188G>A	NP_008849.2:n.445-188G>A
NM_006918.5:c.445-188G>A MANE Select	NP_008849.2:n.445-188G>A
NM_001024956.3:c.445-188G>A	NP_001020127.1:n.445-188G>A