Canonical Allele Identifier: CA5238309

Gene: SCAI

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.124971709C>T , CM000671.2:g.124971709C>T	GRCh38
NC_000009.11:g.127733988C>T , CM000671.1:g.127733988C>T	GRCh37
NC_000009.10:g.126773809C>T	NCBI36
NG_016620.1:g.176851G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001144877.3:c.1535G>A MANE Select	NP_001138349.1:p.Arg512His
ENST00000336505.11:c.1535G>A MANE Select	ENSP00000336756.6:p.Arg512His
NM_001144877.2:c.1535G>A	NP_001138349.1:p.Arg512His
NM_173690.4:c.1604G>A	NP_775961.2:p.Arg535His
NM_173690.5:c.1604G>A	NP_775961.2:p.Arg535His
ENST00000336505.10:c.1535G>A	ENSP00000336756.5:p.Arg512His
ENST00000373549.8:c.1604G>A	ENSP00000362650.4:p.Arg535His
ENST00000467917.5:c.467G>A
ENST00000477186.5:c.1453G>A	ENSP00000419576.1:p.Val485Met
ENST00000494102.2:c.311G>A	ENSP00000419358.2:n.311G>A
XR_929767.1:n.1806G>A