Canonical Allele Identifier: CA343154737
Gene: SELE HGNC NCBI
FIRRM HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.169700986C>A (hg19) chr1:g.169731845C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.169731845C>A , CM000663.2:g.169731845C>A GRCh38
NC_000001.10:g.169700986C>A , CM000663.1:g.169700986C>A GRCh37
NC_000001.9:g.167967610C>A NCBI36
NG_012124.1:g.7235G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000333360.12:c.519G>T (SELE) MANE Select ENSP00000331736.7:p.Lys173Asn
ENST00000333360.11:c.519G>T (SELE) ENSP00000331736.7:p.Lys173Asn
ENST00000367774.1:c.519G>T (SELE) ENSP00000356748.1:p.Lys173Asn
ENST00000367775.5:c.519G>T (SELE) ENSP00000356749.1:p.Lys173Asn
ENST00000367776.5:c.519G>T (SELE) ENSP00000356750.1:p.Lys173Asn
ENST00000367777.5:c.519G>T (SELE) ENSP00000356751.1:p.Lys173Asn
ENST00000461085.1:n.202G>T (SELE)
ENST00000498289.5:n.851+47913C>A (FIRRM)
NM_000450.2:c.519G>T (SELE) MANE Select NP_000441.2:p.Lys173Asn
Search 100 bp 5'
Search 100 bp 3'