Canonical Allele Identifier: CA383029241

Gene: SC5D

Linked Data

• MyVariant Identifiers: chr11:g.121177819T>A (hg19) ; chr11:g.121307110T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121307110T>A , CM000673.2:g.121307110T>A	GRCh38
NC_000011.9:g.121177819T>A , CM000673.1:g.121177819T>A	GRCh37
NC_000011.8:g.120683029T>A	NCBI36
NG_009446.1:g.19432T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264027.9:c.498T>A MANE Select	ENSP00000264027.4:p.His166Gln
ENST00000264027.8:c.498T>A	ENSP00000264027.4:p.His166Gln
ENST00000392789.2:c.498T>A	ENSP00000376539.2:p.His166Gln
ENST00000527183.1:n.791T>A
ENST00000527762.5:c.519T>A	ENSP00000436290.1:p.His173Gln
ENST00000528991.1:n.191T>A
ENST00000534230.5:c.498T>A	ENSP00000432550.1:p.His166Gln
NM_001024956.2:c.498T>A	NP_001020127.1:p.His166Gln
NM_006918.4:c.498T>A	NP_008849.2:p.His166Gln
NM_006918.5:c.498T>A MANE Select	NP_008849.2:p.His166Gln
NM_001024956.3:c.498T>A	NP_001020127.1:p.His166Gln