Canonical Allele Identifier: CA32450653

Gene: SELL FIRRM

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.169703414G>A , CM000663.2:g.169703414G>A	GRCh38
NC_000001.10:g.169672555G>A , CM000663.1:g.169672555G>A	GRCh37
NC_000001.9:g.167939179G>A	NCBI36
NG_016132.1:g.13289C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236147.6:c.793C>T (SELL) MANE Select	ENSP00000236147.5:p.Pro265Ser
ENST00000650983.1:c.832C>T (SELL)	ENSP00000498227.1:p.Pro278Ser
ENST00000236147.4:c.832C>T (SELL)	ENSP00000236147.4:p.Pro278Ser
ENST00000460650.5:n.213C>T (SELL)
ENST00000463108.5:n.993C>T (SELL)
ENST00000479657.5:n.604C>T (SELL)
ENST00000498289.5:n.851+19482G>A (FIRRM)
NM_000655.4:c.832C>T (SELL)	NP_000646.2:p.Pro278Ser
NR_029467.1:n.761C>T (SELL)
NM_000655.5:c.793C>T (SELL) MANE Select	NP_000646.3:p.Pro265Ser
NR_029467.2:n.762C>T (SELL)