Canonical Allele Identifier: CA343154745
Gene: SELE HGNC NCBI
FIRRM HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.169700987T>C (hg19) chr1:g.169731846T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.169731846T>C , CM000663.2:g.169731846T>C GRCh38
NC_000001.10:g.169700987T>C , CM000663.1:g.169700987T>C GRCh37
NC_000001.9:g.167967611T>C NCBI36
NG_012124.1:g.7234A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000333360.12:c.518A>G (SELE) MANE Select ENSP00000331736.7:p.Lys173Arg
ENST00000333360.11:c.518A>G (SELE) ENSP00000331736.7:p.Lys173Arg
ENST00000367774.1:c.518A>G (SELE) ENSP00000356748.1:p.Lys173Arg
ENST00000367775.5:c.518A>G (SELE) ENSP00000356749.1:p.Lys173Arg
ENST00000367776.5:c.518A>G (SELE) ENSP00000356750.1:p.Lys173Arg
ENST00000367777.5:c.518A>G (SELE) ENSP00000356751.1:p.Lys173Arg
ENST00000461085.1:n.201A>G (SELE)
ENST00000498289.5:n.851+47914T>C (FIRRM)
NM_000450.2:c.518A>G (SELE) MANE Select NP_000441.2:p.Lys173Arg
Search 100 bp 5'
Search 100 bp 3'