Canonical Allele Identifier: CA477383813

Gene: SC5D

Linked Data

• MyVariant Identifiers: chr11:g.121177969C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121307260C>A , CM000673.2:g.121307260C>A	GRCh38
NC_000011.9:g.121177969C>A , CM000673.1:g.121177969C>A	GRCh37
NC_000011.8:g.120683179C>A	NCBI36
NG_009446.1:g.19582C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264027.9:c.648C>A MANE Select	ENSP00000264027.4:p.Pro216=
ENST00000264027.8:c.648C>A	ENSP00000264027.4:p.Pro216=
ENST00000392789.2:c.648C>A	ENSP00000376539.2:p.Pro216=
ENST00000527183.1:n.941C>A
ENST00000528991.1:n.341C>A
ENST00000534230.5:c.631+17C>A	ENSP00000432550.1:n.631+17C>A
NM_001024956.2:c.648C>A	NP_001020127.1:p.Pro216=
NM_006918.4:c.648C>A	NP_008849.2:p.Pro216=
NM_006918.5:c.648C>A MANE Select	NP_008849.2:p.Pro216=
NM_001024956.3:c.648C>A	NP_001020127.1:p.Pro216=