Canonical Allele Identifier: CA890964310
Gene: SELE HGNC NCBI
FIRRM HGNC NCBI

Linked Data

dbSNP Id: rs1436169205
gnomAD v3: 1-169731739-G-C
gnomAD v4: 1-169731739-G-C
MyVariant Identifiers: chr1:g.169700880G>C (hg19) chr1:g.169731739G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.169731739G>C , CM000663.2:g.169731739G>C GRCh38
NC_000001.10:g.169700880G>C , CM000663.1:g.169700880G>C GRCh37
NC_000001.9:g.167967504G>C NCBI36
NG_012124.1:g.7341C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000333360.12:c.529+96C>G (SELE) MANE Select ENSP00000331736.7:n.529+96C>G
ENST00000333360.11:c.529+96C>G (SELE) ENSP00000331736.7:n.529+96C>G
ENST00000367774.1:c.529+96C>G (SELE) ENSP00000356748.1:n.529+96C>G
ENST00000367775.5:c.529+96C>G (SELE) ENSP00000356749.1:n.529+96C>G
ENST00000367776.5:c.529+96C>G (SELE) ENSP00000356750.1:n.529+96C>G
ENST00000367777.5:c.529+96C>G (SELE) ENSP00000356751.1:n.529+96C>G
ENST00000461085.1:n.308C>G (SELE)
ENST00000498289.5:n.851+47807G>C (FIRRM)
NM_000450.2:c.529+96C>G (SELE) MANE Select NP_000441.2:n.529+96C>G
Search 100 bp 5'
Search 100 bp 3'