Canonical Allele Identifier: CA383030197

Gene: SC5D

Linked Data

• MyVariant Identifiers: chr11:g.121177977T>G (hg19) ; chr11:g.121307268T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121307268T>G , CM000673.2:g.121307268T>G	GRCh38
NC_000011.9:g.121177977T>G , CM000673.1:g.121177977T>G	GRCh37
NC_000011.8:g.120683187T>G	NCBI36
NG_009446.1:g.19590T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264027.9:c.656T>G MANE Select	ENSP00000264027.4:p.Leu219Ter
ENST00000264027.8:c.656T>G	ENSP00000264027.4:p.Leu219Ter
ENST00000392789.2:c.656T>G	ENSP00000376539.2:p.Leu219Ter
ENST00000527183.1:n.949T>G
ENST00000534230.5:c.631+25T>G	ENSP00000432550.1:n.631+25T>G
NM_001024956.2:c.656T>G	NP_001020127.1:p.Leu219Ter
NM_006918.4:c.656T>G	NP_008849.2:p.Leu219Ter
NM_006918.5:c.656T>G MANE Select	NP_008849.2:p.Leu219Ter
NM_001024956.3:c.656T>G	NP_001020127.1:p.Leu219Ter