Canonical Allele Identifier: CA343153726

Gene: SELE FIRRM

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.169730479T>A , CM000663.2:g.169730479T>A	GRCh38
NC_000001.10:g.169699620T>A , CM000663.1:g.169699620T>A	GRCh37
NC_000001.9:g.167966244T>A	NCBI36
NG_012124.1:g.8601A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000450.2:c.668A>T (SELE) MANE Select	NP_000441.2:p.Gln223Leu
ENST00000333360.12:c.668A>T (SELE) MANE Select	ENSP00000331736.7:p.Gln223Leu
ENST00000333360.11:c.668A>T (SELE)	ENSP00000331736.7:p.Gln223Leu
ENST00000367774.1:c.668A>T (SELE)	ENSP00000356748.1:p.Gln223Leu
ENST00000367775.5:c.530-806A>T (SELE)	ENSP00000356749.1:n.530-806A>T
ENST00000367776.5:c.668A>T (SELE)	ENSP00000356750.1:p.Gln223Leu
ENST00000367777.5:c.668A>T (SELE)	ENSP00000356751.1:p.Gln223Leu
ENST00000498289.5:n.851+46547T>A (FIRRM)