Canonical Allele Identifier: CA6328224
Gene: SC5D HGNC NCBI

Linked Data

ClinVar Variation Id: 1383007
ClinVar RCV Id: RCV001890700
dbSNP Id: rs768100179
ExAC: 11:121178073 G / A
gnomAD v2: 11-121178073-G-A
gnomAD v3: 11-121307364-G-A
gnomAD v4: 11-121307364-G-A
MyVariant Identifiers: chr11:g.121178073G>A (hg19) chr11:g.121307364G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.121307364G>A , CM000673.2:g.121307364G>A GRCh38
NC_000011.9:g.121178073G>A , CM000673.1:g.121178073G>A GRCh37
NC_000011.8:g.120683283G>A NCBI36
NG_009446.1:g.19686G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264027.9:c.752G>A MANE Select ENSP00000264027.4:p.Gly251Asp
ENST00000264027.8:c.752G>A ENSP00000264027.4:p.Gly251Asp
ENST00000392789.2:c.752G>A ENSP00000376539.2:p.Gly251Asp
ENST00000527183.1:n.1045G>A
ENST00000534230.5:c.632-93G>A ENSP00000432550.1:n.632-93G>A
NM_001024956.2:c.752G>A NP_001020127.1:p.Gly251Asp
NM_006918.4:c.752G>A NP_008849.2:p.Gly251Asp
NM_006918.5:c.752G>A MANE Select NP_008849.2:p.Gly251Asp
NM_001024956.3:c.752G>A NP_001020127.1:p.Gly251Asp
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