Canonical Allele Identifier: CA383030501

Gene: SC5D

Linked Data

• MyVariant Identifiers: chr11:g.121178043G>T (hg19) ; chr11:g.121307334G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121307334G>T , CM000673.2:g.121307334G>T	GRCh38
NC_000011.9:g.121178043G>T , CM000673.1:g.121178043G>T	GRCh37
NC_000011.8:g.120683253G>T	NCBI36
NG_009446.1:g.19656G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264027.9:c.722G>T MANE Select	ENSP00000264027.4:p.Gly241Val
ENST00000264027.8:c.722G>T	ENSP00000264027.4:p.Gly241Val
ENST00000392789.2:c.722G>T	ENSP00000376539.2:p.Gly241Val
ENST00000527183.1:n.1015G>T
ENST00000534230.5:c.631+91G>T	ENSP00000432550.1:n.631+91G>T
NM_001024956.2:c.722G>T	NP_001020127.1:p.Gly241Val
NM_006918.4:c.722G>T	NP_008849.2:p.Gly241Val
NM_006918.5:c.722G>T MANE Select	NP_008849.2:p.Gly241Val
NM_001024956.3:c.722G>T	NP_001020127.1:p.Gly241Val