Canonical Allele Identifier: CA477383863

Gene: SC5D

Linked Data

• dbSNP Id: rs1487855864
• gnomAD v2: 11-121178035-T-C
• gnomAD v4: 11-121307326-T-C
• MyVariant Identifiers: chr11:g.121178035T>C (hg19) ; chr11:g.121307326T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121307326T>C , CM000673.2:g.121307326T>C	GRCh38
NC_000011.9:g.121178035T>C , CM000673.1:g.121178035T>C	GRCh37
NC_000011.8:g.120683245T>C	NCBI36
NG_009446.1:g.19648T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264027.9:c.714T>C MANE Select	ENSP00000264027.4:p.Tyr238=
ENST00000264027.8:c.714T>C	ENSP00000264027.4:p.Tyr238=
ENST00000392789.2:c.714T>C	ENSP00000376539.2:p.Tyr238=
ENST00000527183.1:n.1007T>C
ENST00000534230.5:c.631+83T>C	ENSP00000432550.1:n.631+83T>C
NM_001024956.2:c.714T>C	NP_001020127.1:p.Tyr238=
NM_006918.4:c.714T>C	NP_008849.2:p.Tyr238=
NM_006918.5:c.714T>C MANE Select	NP_008849.2:p.Tyr238=
NM_001024956.3:c.714T>C	NP_001020127.1:p.Tyr238=