Canonical Allele Identifier: CA6328223
Gene: SC5D HGNC NCBI

Linked Data

ClinVar Variation Id: 1905415
ClinVar RCV Id: RCV002580855
dbSNP Id: rs760187497
ExAC: 11:121178065 T / C
gnomAD v2: 11-121178065-T-C
gnomAD v3: 11-121307356-T-C
gnomAD v4: 11-121307356-T-C
MyVariant Identifiers: chr11:g.121178065T>C (hg19) chr11:g.121307356T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.121307356T>C , CM000673.2:g.121307356T>C GRCh38
NC_000011.9:g.121178065T>C , CM000673.1:g.121178065T>C GRCh37
NC_000011.8:g.120683275T>C NCBI36
NG_009446.1:g.19678T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264027.9:c.744T>C MANE Select ENSP00000264027.4:p.Asp248=
ENST00000264027.8:c.744T>C ENSP00000264027.4:p.Asp248=
ENST00000392789.2:c.744T>C ENSP00000376539.2:p.Asp248=
ENST00000527183.1:n.1037T>C
ENST00000534230.5:c.632-101T>C ENSP00000432550.1:n.632-101T>C
NM_001024956.2:c.744T>C NP_001020127.1:p.Asp248=
NM_006918.4:c.744T>C NP_008849.2:p.Asp248=
NM_006918.5:c.744T>C MANE Select NP_008849.2:p.Asp248=
NM_001024956.3:c.744T>C NP_001020127.1:p.Asp248=
Search 100 bp 5'
Search 100 bp 3'