Canonical Allele Identifier: CA383030403

Gene: SC5D

Linked Data

• MyVariant Identifiers: chr11:g.121178022T>G (hg19) ; chr11:g.121307313T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121307313T>G , CM000673.2:g.121307313T>G	GRCh38
NC_000011.9:g.121178022T>G , CM000673.1:g.121178022T>G	GRCh37
NC_000011.8:g.120683232T>G	NCBI36
NG_009446.1:g.19635T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264027.9:c.701T>G MANE Select	ENSP00000264027.4:p.Met234Arg
ENST00000264027.8:c.701T>G	ENSP00000264027.4:p.Met234Arg
ENST00000392789.2:c.701T>G	ENSP00000376539.2:p.Met234Arg
ENST00000527183.1:n.994T>G
ENST00000534230.5:c.631+70T>G	ENSP00000432550.1:n.631+70T>G
NM_001024956.2:c.701T>G	NP_001020127.1:p.Met234Arg
NM_006918.4:c.701T>G	NP_008849.2:p.Met234Arg
NM_006918.5:c.701T>G MANE Select	NP_008849.2:p.Met234Arg
NM_001024956.3:c.701T>G	NP_001020127.1:p.Met234Arg