Canonical Allele Identifier: CA343149339

Gene: SELE FIRRM

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000333360.12:c.1402C>G (SELE) MANE Select	ENSP00000331736.7:p.His468Asp
ENST00000333360.11:c.1402C>G (SELE)	ENSP00000331736.7:p.His468Asp
ENST00000367774.1:c.1091-280C>G (SELE)	ENSP00000356748.1:n.1091-280C>G
ENST00000367775.5:c.1027C>G (SELE)	ENSP00000356749.1:p.His343Asp
ENST00000367776.5:c.1213C>G (SELE)	ENSP00000356750.1:p.His405Asp
ENST00000367777.5:c.1279+253C>G (SELE)	ENSP00000356751.1:n.1279+253C>G
ENST00000498289.5:n.851+43873G>C (FIRRM)
NM_000450.2:c.1402C>G (SELE) MANE Select	NP_000441.2:p.His468Asp