Canonical Allele Identifier: CA383029739

Gene: SC5D

Linked Data

• dbSNP Id: rs1465426900
• gnomAD v2: 11-121177884-C-T
• gnomAD v4: 11-121307175-C-T
• MyVariant Identifiers: chr11:g.121177884C>T (hg19) ; chr11:g.121307175C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121307175C>T , CM000673.2:g.121307175C>T	GRCh38
NC_000011.9:g.121177884C>T , CM000673.1:g.121177884C>T	GRCh37
NC_000011.8:g.120683094C>T	NCBI36
NG_009446.1:g.19497C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264027.9:c.563C>T MANE Select	ENSP00000264027.4:p.Pro188Leu
ENST00000264027.8:c.563C>T	ENSP00000264027.4:p.Pro188Leu
ENST00000392789.2:c.563C>T	ENSP00000376539.2:p.Pro188Leu
ENST00000527183.1:n.856C>T
ENST00000528991.1:n.256C>T
ENST00000534230.5:c.563C>T	ENSP00000432550.1:p.Pro188Leu
NM_001024956.2:c.563C>T	NP_001020127.1:p.Pro188Leu
NM_006918.4:c.563C>T	NP_008849.2:p.Pro188Leu
NM_006918.5:c.563C>T MANE Select	NP_008849.2:p.Pro188Leu
NM_001024956.3:c.563C>T	NP_001020127.1:p.Pro188Leu