Canonical Allele Identifier: CA383030513

Gene: SC5D

Linked Data

• dbSNP Id: rs1244071186
• gnomAD v2: 11-121178046-A-G
• gnomAD v3: 11-121307337-A-G
• gnomAD v4: 11-121307337-A-G
• MyVariant Identifiers: chr11:g.121178046A>G (hg19) ; chr11:g.121307337A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121307337A>G , CM000673.2:g.121307337A>G	GRCh38
NC_000011.9:g.121178046A>G , CM000673.1:g.121178046A>G	GRCh37
NC_000011.8:g.120683256A>G	NCBI36
NG_009446.1:g.19659A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264027.9:c.725A>G MANE Select	ENSP00000264027.4:p.Gln242Arg
ENST00000264027.8:c.725A>G	ENSP00000264027.4:p.Gln242Arg
ENST00000392789.2:c.725A>G	ENSP00000376539.2:p.Gln242Arg
ENST00000527183.1:n.1018A>G
ENST00000534230.5:c.631+94A>G	ENSP00000432550.1:n.631+94A>G
NM_001024956.2:c.725A>G	NP_001020127.1:p.Gln242Arg
NM_006918.4:c.725A>G	NP_008849.2:p.Gln242Arg
NM_006918.5:c.725A>G MANE Select	NP_008849.2:p.Gln242Arg
NM_001024956.3:c.725A>G	NP_001020127.1:p.Gln242Arg