Canonical Allele Identifier: CA343154645
Gene: SELE HGNC NCBI
FIRRM HGNC NCBI

Linked Data

COSMIC: COSM4431569
MyVariant Identifiers: chr1:g.169700975C>G (hg19) chr1:g.169731834C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.169731834C>G , CM000663.2:g.169731834C>G GRCh38
NC_000001.10:g.169700975C>G , CM000663.1:g.169700975C>G GRCh37
NC_000001.9:g.167967599C>G NCBI36
NG_012124.1:g.7246G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000333360.12:c.529+1G>C (SELE) MANE Select ENSP00000331736.7:n.529+1G>C
ENST00000333360.11:c.529+1G>C (SELE) ENSP00000331736.7:n.529+1G>C
ENST00000367774.1:c.529+1G>C (SELE) ENSP00000356748.1:n.529+1G>C
ENST00000367775.5:c.529+1G>C (SELE) ENSP00000356749.1:n.529+1G>C
ENST00000367776.5:c.529+1G>C (SELE) ENSP00000356750.1:n.529+1G>C
ENST00000367777.5:c.529+1G>C (SELE) ENSP00000356751.1:n.529+1G>C
ENST00000461085.1:n.213G>C (SELE)
ENST00000498289.5:n.851+47902C>G (FIRRM)
NM_000450.2:c.529+1G>C (SELE) MANE Select NP_000441.2:n.529+1G>C
Search 100 bp 5'
Search 100 bp 3'