Canonical Allele Identifier: CA231306456
Community Standard Title: NM_032801.5(JAM3):c.256+173T>C
Gene: JAM3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.134140943T>C , CM000673.2:g.134140943T>C GRCh38
NC_000011.9:g.134010838T>C , CM000673.1:g.134010838T>C GRCh37
NC_000011.8:g.133516048T>C NCBI36
NG_028348.1:g.77019T>C

Transcript Alleles

HGVS Amino-acid Change
NM_032801.5:c.256+173T>C MANE Select NP_116190.3:n.256+173T>C
ENST00000299106.9:c.256+173T>C MANE Select ENSP00000299106.4:n.256+173T>C
NM_001205329.1:c.256+173T>C NP_001192258.1:n.256+173T>C
NM_001205329.2:c.256+173T>C NP_001192258.1:n.256+173T>C
NM_032801.4:c.256+173T>C NP_116190.3:n.256+173T>C
ENST00000299106.8:c.256+173T>C ENSP00000299106.4:n.256+173T>C
ENST00000441717.3:c.256+173T>C ENSP00000395742.3:n.256+173T>C
ENST00000524969.5:n.320+173T>C
ENST00000531302.5:n.255+173T>C
ENST00000532165.1:n.286+173T>C
ENST00000532252.5:c.*246+173T>C ENSP00000432455.1:n.*246+173T>C
ENST00000534549.5:c.77-3298T>C ENSP00000433206.1:n.77-3298T>C