Canonical Allele Identifier: CA6328217
Gene: SC5D HGNC NCBI

Linked Data

dbSNP Id: rs151190785
ExAC: 11:121178016 A / G
gnomAD v2: 11-121178016-A-G
gnomAD v3: 11-121307307-A-G
gnomAD v4: 11-121307307-A-G
MyVariant Identifiers: chr11:g.121178016A>G (hg19) chr11:g.121307307A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.121307307A>G , CM000673.2:g.121307307A>G GRCh38
NC_000011.9:g.121178016A>G , CM000673.1:g.121178016A>G GRCh37
NC_000011.8:g.120683226A>G NCBI36
NG_009446.1:g.19629A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000264027.9:c.695A>G MANE Select ENSP00000264027.4:p.His232Arg
ENST00000264027.8:c.695A>G ENSP00000264027.4:p.His232Arg
ENST00000392789.2:c.695A>G ENSP00000376539.2:p.His232Arg
ENST00000527183.1:n.988A>G
ENST00000534230.5:c.631+64A>G ENSP00000432550.1:n.631+64A>G
NM_001024956.2:c.695A>G NP_001020127.1:p.His232Arg
NM_006918.4:c.695A>G NP_008849.2:p.His232Arg
NM_006918.5:c.695A>G MANE Select NP_008849.2:p.His232Arg
NM_001024956.3:c.695A>G NP_001020127.1:p.His232Arg
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