Canonical Allele Identifier: CA477217306

Gene: SC5D

Linked Data

• MyVariant Identifiers: chr11:g.121174144C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121303435C>T , CM000673.2:g.121303435C>T	GRCh38
NC_000011.9:g.121174144C>T , CM000673.1:g.121174144C>T	GRCh37
NC_000011.8:g.120679354C>T	NCBI36
NG_009446.1:g.15757C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264027.9:c.60C>T MANE Select	ENSP00000264027.4:p.Ala20=
ENST00000264027.8:c.60C>T	ENSP00000264027.4:p.Ala20=
ENST00000392789.2:c.60C>T	ENSP00000376539.2:p.Ala20=
ENST00000524683.5:n.116C>T
ENST00000527762.5:c.60C>T	ENSP00000436290.1:p.Ala20=
ENST00000531140.1:n.128C>T
ENST00000534230.5:c.60C>T	ENSP00000432550.1:p.Ala20=
ENST00000534455.5:n.206C>T
NM_001024956.2:c.60C>T	NP_001020127.1:p.Ala20=
NM_006918.4:c.60C>T	NP_008849.2:p.Ala20=
NM_006918.5:c.60C>T MANE Select	NP_008849.2:p.Ala20=
NM_001024956.3:c.60C>T	NP_001020127.1:p.Ala20=