Canonical Allele Identifier: CA343154646
Gene: SELE HGNC NCBI
FIRRM HGNC NCBI

Linked Data

dbSNP Id: rs1162142670
gnomAD v3: 1-169731834-C-T
gnomAD v4: 1-169731834-C-T
MyVariant Identifiers: chr1:g.169700975C>T (hg19) chr1:g.169731834C>T (hg38)
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000333360.12:c.529+1G>A (SELE) MANE Select ENSP00000331736.7:n.529+1G>A
ENST00000333360.11:c.529+1G>A (SELE) ENSP00000331736.7:n.529+1G>A
ENST00000367774.1:c.529+1G>A (SELE) ENSP00000356748.1:n.529+1G>A
ENST00000367775.5:c.529+1G>A (SELE) ENSP00000356749.1:n.529+1G>A
ENST00000367776.5:c.529+1G>A (SELE) ENSP00000356750.1:n.529+1G>A
ENST00000367777.5:c.529+1G>A (SELE) ENSP00000356751.1:n.529+1G>A
ENST00000461085.1:n.213G>A (SELE)
ENST00000498289.5:n.851+47902C>T (FIRRM)
NM_000450.2:c.529+1G>A (SELE) MANE Select NP_000441.2:n.529+1G>A
Search 100 bp 5'
Search 100 bp 3'