Canonical Allele Identifier: CA1236346

Linked Data

dbSNP Id: rs5362

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.169731820A>G , CM000663.2:g.169731820A>G GRCh38
NC_000001.10:g.169700961A>G , CM000663.1:g.169700961A>G GRCh37
NC_000001.9:g.167967585A>G NCBI36
NG_012124.1:g.7260T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000333360.12:c.529+15T>C (SELE) MANE Select ENSP00000331736.7:n.529+15T>C
ENST00000333360.11:c.529+15T>C (SELE) ENSP00000331736.7:n.529+15T>C
ENST00000367774.1:c.529+15T>C (SELE) ENSP00000356748.1:n.529+15T>C
ENST00000367775.5:c.529+15T>C (SELE) ENSP00000356749.1:n.529+15T>C
ENST00000367776.5:c.529+15T>C (SELE) ENSP00000356750.1:n.529+15T>C
ENST00000367777.5:c.529+15T>C (SELE) ENSP00000356751.1:n.529+15T>C
ENST00000461085.1:n.227T>C (SELE)
ENST00000498289.5:n.851+47888A>G (FIRRM)
NM_000450.2:c.529+15T>C (SELE) MANE Select NP_000441.2:n.529+15T>C