Canonical Allele Identifier: CA383030301
Gene: SC5D HGNC NCBI

Linked Data

gnomAD v4: 11-121307291-G-A
MyVariant Identifiers: chr11:g.121178000G>A (hg19) chr11:g.121307291G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.121307291G>A , CM000673.2:g.121307291G>A GRCh38
NC_000011.9:g.121178000G>A , CM000673.1:g.121178000G>A GRCh37
NC_000011.8:g.120683210G>A NCBI36
NG_009446.1:g.19613G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000264027.9:c.679G>A MANE Select ENSP00000264027.4:p.Ala227Thr
ENST00000264027.8:c.679G>A ENSP00000264027.4:p.Ala227Thr
ENST00000392789.2:c.679G>A ENSP00000376539.2:p.Ala227Thr
ENST00000527183.1:n.972G>A
ENST00000534230.5:c.631+48G>A ENSP00000432550.1:n.631+48G>A
NM_001024956.2:c.679G>A NP_001020127.1:p.Ala227Thr
NM_006918.4:c.679G>A NP_008849.2:p.Ala227Thr
NM_006918.5:c.679G>A MANE Select NP_008849.2:p.Ala227Thr
NM_001024956.3:c.679G>A NP_001020127.1:p.Ala227Thr
Search 100 bp 5'
Search 100 bp 3'