Canonical Allele Identifier: CA1235767
Gene: SELL HGNC NCBI
FIRRM HGNC NCBI

Linked Data

dbSNP Id: rs758214367
ExAC: 1:169676497 G / A
gnomAD v2: 1-169676497-G-A
gnomAD v3: 1-169707356-G-A
gnomAD v4: 1-169707356-G-A
MyVariant Identifiers: chr1:g.169676497G>A (hg19) chr1:g.169707356G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.169707356G>A , CM000663.2:g.169707356G>A GRCh38
NC_000001.10:g.169676497G>A , CM000663.1:g.169676497G>A GRCh37
NC_000001.9:g.167943121G>A NCBI36
NG_016132.1:g.9347C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000236147.6:c.566C>T (SELL) MANE Select ENSP00000236147.5:p.Pro189Leu
ENST00000650983.1:c.605C>T (SELL) ENSP00000498227.1:p.Pro202Leu
ENST00000236147.4:c.605C>T (SELL) ENSP00000236147.4:p.Pro202Leu
ENST00000463108.5:n.766C>T (SELL)
ENST00000466340.1:n.578C>T (SELL)
ENST00000479657.5:n.318C>T (SELL)
ENST00000498289.5:n.851+23424G>A (FIRRM)
NM_000655.4:c.605C>T (SELL) NP_000646.2:p.Pro202Leu
NR_029467.1:n.534C>T (SELL)
NM_000655.5:c.566C>T (SELL) MANE Select NP_000646.3:p.Pro189Leu
NR_029467.2:n.535C>T (SELL)
Search 100 bp 5'
Search 100 bp 3'