Canonical Allele Identifier: CA32480796

Gene: SELE FIRRM

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.169729553A>G , CM000663.2:g.169729553A>G	GRCh38
NC_000001.10:g.169698694A>G , CM000663.1:g.169698694A>G	GRCh37
NC_000001.9:g.167965318A>G	NCBI36
NG_012124.1:g.9527T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333360.12:c.836T>C (SELE) MANE Select	ENSP00000331736.7:p.Met279Thr
ENST00000333360.11:c.836T>C (SELE)	ENSP00000331736.7:p.Met279Thr
ENST00000367774.1:c.836T>C (SELE)	ENSP00000356748.1:p.Met279Thr
ENST00000367775.5:c.650T>C (SELE)	ENSP00000356749.1:p.Met217Thr
ENST00000367776.5:c.836T>C (SELE)	ENSP00000356750.1:p.Met279Thr
ENST00000367777.5:c.836T>C (SELE)	ENSP00000356751.1:p.Met279Thr
ENST00000498289.5:n.851+45621A>G (FIRRM)
NM_000450.2:c.836T>C (SELE) MANE Select	NP_000441.2:p.Met279Thr