Canonical Allele Identifier: CA343157111
Gene: SELE HGNC NCBI
FIRRM HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.169732809T>C
GRCh37 chr1:g.169701950T>C
Revel Score:
ENST00000367781 0.245
ENST00000367782 0.245
ENST00000367780 0.245
ENST00000367779 0.245
ENST00000333360 (MANE Select) 0.245
ENST00000367777 0.245
ENST00000367775 0.245
ENST00000367776 0.245
ENST00000367774 0.245
ClinVar RCV:
RCV004275832
ClinVar Variation:
2489239
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.169732809T>C , CM000663.2:g.169732809T>C GRCh38
NC_000001.10:g.169701950T>C , CM000663.1:g.169701950T>C GRCh37
NC_000001.9:g.167968574T>C NCBI36
NG_012124.1:g.6271A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000333360.12:c.227A>G (SELE) MANE Select ENSP00000331736.7:p.Lys76Arg
ENST00000333360.11:c.227A>G (SELE) ENSP00000331736.7:p.Lys76Arg
ENST00000367774.1:c.227A>G (SELE) ENSP00000356748.1:p.Lys76Arg
ENST00000367775.5:c.227A>G (SELE) ENSP00000356749.1:p.Lys76Arg
ENST00000367776.5:c.227A>G (SELE) ENSP00000356750.1:p.Lys76Arg
ENST00000367777.5:c.227A>G (SELE) ENSP00000356751.1:p.Lys76Arg
ENST00000498289.5:n.851+48877T>C (FIRRM)
NM_000450.2:c.227A>G (SELE) MANE Select NP_000441.2:p.Lys76Arg
Search 100 bp 5'
Search 100 bp 3'