Canonical Allele Identifier: CA477217295

Gene: SC5D

Linked Data

• dbSNP Id: rs1281705127
• gnomAD v2: 11-121174135-G-C
• gnomAD v4: 11-121303426-G-C
• MyVariant Identifiers: chr11:g.121174135G>C (hg19) ; chr11:g.121303426G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121303426G>C , CM000673.2:g.121303426G>C	GRCh38
NC_000011.9:g.121174135G>C , CM000673.1:g.121174135G>C	GRCh37
NC_000011.8:g.120679345G>C	NCBI36
NG_009446.1:g.15748G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264027.9:c.51G>C MANE Select	ENSP00000264027.4:p.Val17=
ENST00000264027.8:c.51G>C	ENSP00000264027.4:p.Val17=
ENST00000392789.2:c.51G>C	ENSP00000376539.2:p.Val17=
ENST00000524683.5:n.107G>C
ENST00000527762.5:c.51G>C	ENSP00000436290.1:p.Val17=
ENST00000531140.1:n.119G>C
ENST00000534230.5:c.51G>C	ENSP00000432550.1:p.Val17=
ENST00000534455.5:n.197G>C
NM_001024956.2:c.51G>C	NP_001020127.1:p.Val17=
NM_006918.4:c.51G>C	NP_008849.2:p.Val17=
NM_006918.5:c.51G>C MANE Select	NP_008849.2:p.Val17=
NM_001024956.3:c.51G>C	NP_001020127.1:p.Val17=