Canonical Allele Identifier: CA1235754

Gene: SELL FIRRM

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.169704697G>T , CM000663.2:g.169704697G>T	GRCh38
NC_000001.10:g.169673838G>T , CM000663.1:g.169673838G>T	GRCh37
NC_000001.9:g.167940462G>T	NCBI36
NG_016132.1:g.12006C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236147.6:c.637C>A (SELL) MANE Select	ENSP00000236147.5:p.Pro213Thr
ENST00000650983.1:c.676C>A (SELL)	ENSP00000498227.1:p.Pro226Thr
ENST00000236147.4:c.676C>A (SELL)	ENSP00000236147.4:p.Pro226Thr
ENST00000460650.5:n.57C>A (SELL)
ENST00000463108.5:n.837C>A (SELL)
ENST00000479657.5:n.389C>A (SELL)
ENST00000498289.5:n.851+20765G>T (FIRRM)
NM_000655.4:c.676C>A (SELL)	NP_000646.2:p.Pro226Thr
NR_029467.1:n.605C>A (SELL)
NM_000655.5:c.637C>A (SELL) MANE Select	NP_000646.3:p.Pro213Thr
NR_029467.2:n.606C>A (SELL)