Canonical Allele Identifier: CA383030598

Gene: SC5D

Linked Data

• dbSNP Id: rs1947974432
• MyVariant Identifiers: chr11:g.121178064A>T (hg19) ; chr11:g.121307355A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121307355A>T , CM000673.2:g.121307355A>T	GRCh38
NC_000011.9:g.121178064A>T , CM000673.1:g.121178064A>T	GRCh37
NC_000011.8:g.120683274A>T	NCBI36
NG_009446.1:g.19677A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264027.9:c.743A>T MANE Select	ENSP00000264027.4:p.Asp248Val
ENST00000264027.8:c.743A>T	ENSP00000264027.4:p.Asp248Val
ENST00000392789.2:c.743A>T	ENSP00000376539.2:p.Asp248Val
ENST00000527183.1:n.1036A>T
ENST00000534230.5:c.632-102A>T	ENSP00000432550.1:n.632-102A>T
NM_001024956.2:c.743A>T	NP_001020127.1:p.Asp248Val
NM_006918.4:c.743A>T	NP_008849.2:p.Asp248Val
NM_006918.5:c.743A>T MANE Select	NP_008849.2:p.Asp248Val
NM_001024956.3:c.743A>T	NP_001020127.1:p.Asp248Val