Canonical Allele Identifier: CA477217850

Gene: SC5D

Linked Data

• MyVariant Identifiers: chr11:g.121178092T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121307383T>G , CM000673.2:g.121307383T>G	GRCh38
NC_000011.9:g.121178092T>G , CM000673.1:g.121178092T>G	GRCh37
NC_000011.8:g.120683302T>G	NCBI36
NG_009446.1:g.19705T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264027.9:c.771T>G MANE Select	ENSP00000264027.4:p.Pro257=
ENST00000264027.8:c.771T>G	ENSP00000264027.4:p.Pro257=
ENST00000392789.2:c.771T>G	ENSP00000376539.2:p.Pro257=
ENST00000527183.1:n.1064T>G
ENST00000534230.5:c.632-74T>G	ENSP00000432550.1:n.632-74T>G
NM_001024956.2:c.771T>G	NP_001020127.1:p.Pro257=
NM_006918.4:c.771T>G	NP_008849.2:p.Pro257=
NM_006918.5:c.771T>G MANE Select	NP_008849.2:p.Pro257=
NM_001024956.3:c.771T>G	NP_001020127.1:p.Pro257=