Canonical Allele Identifier: CA1139772975

Gene: SELE FIRRM

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.169727805G= , CM000663.2:g.169727805G=	GRCh38
NC_000001.10:g.169696946G= , CM000663.1:g.169696946G=	GRCh37
NC_000001.9:g.167963570G=	NCBI36
NG_012124.1:g.11275C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333360.12:c.1402C= (SELE) MANE Select	ENSP00000331736.7:p.His468=
ENST00000333360.11:c.1402C= (SELE)	ENSP00000331736.7:p.His468=
ENST00000367774.1:c.1091-280C= (SELE)	ENSP00000356748.1:n.1091-280C=
ENST00000367775.5:c.1027C= (SELE)	ENSP00000356749.1:p.His343=
ENST00000367776.5:c.1213C= (SELE)	ENSP00000356750.1:p.His405=
ENST00000367777.5:c.1279+253C= (SELE)	ENSP00000356751.1:n.1279+253C=
ENST00000498289.5:n.851+43873G= (FIRRM)
NM_000450.2:c.1402C= (SELE) MANE Select	NP_000441.2:p.His468=