Canonical Allele Identifier: CA343154739
Gene: SELE HGNC NCBI
FIRRM HGNC NCBI

Linked Data

gnomAD v4: 1-169731845-C-G
MyVariant Identifiers: chr1:g.169700986C>G (hg19) chr1:g.169731845C>G (hg38)
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000333360.12:c.519G>C (SELE) MANE Select ENSP00000331736.7:p.Lys173Asn
ENST00000333360.11:c.519G>C (SELE) ENSP00000331736.7:p.Lys173Asn
ENST00000367774.1:c.519G>C (SELE) ENSP00000356748.1:p.Lys173Asn
ENST00000367775.5:c.519G>C (SELE) ENSP00000356749.1:p.Lys173Asn
ENST00000367776.5:c.519G>C (SELE) ENSP00000356750.1:p.Lys173Asn
ENST00000367777.5:c.519G>C (SELE) ENSP00000356751.1:p.Lys173Asn
ENST00000461085.1:n.202G>C (SELE)
ENST00000498289.5:n.851+47913C>G (FIRRM)
NM_000450.2:c.519G>C (SELE) MANE Select NP_000441.2:p.Lys173Asn
Search 100 bp 5'
Search 100 bp 3'