Canonical Allele Identifier: CA6369924
Community Standard Title: NM_032801.5(JAM3):c.142+49T>C
Gene: JAM3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.134139965T>C , CM000673.2:g.134139965T>C GRCh38
NC_000011.9:g.134009860T>C , CM000673.1:g.134009860T>C GRCh37
NC_000011.8:g.133515070T>C NCBI36
NG_028348.1:g.76041T>C

Transcript Alleles

HGVS Amino-acid Change
NM_032801.5:c.142+49T>C MANE Select NP_116190.3:n.142+49T>C
ENST00000299106.9:c.142+49T>C MANE Select ENSP00000299106.4:n.142+49T>C
NM_001205329.1:c.142+49T>C NP_001192258.1:n.142+49T>C
NM_001205329.2:c.142+49T>C NP_001192258.1:n.142+49T>C
NM_032801.4:c.142+49T>C NP_116190.3:n.142+49T>C
ENST00000299106.8:c.142+49T>C ENSP00000299106.4:n.142+49T>C
ENST00000441717.3:c.142+49T>C ENSP00000395742.3:n.142+49T>C
ENST00000524969.5:n.206+49T>C
ENST00000531302.5:n.141+49T>C
ENST00000532165.1:n.172+49T>C
ENST00000532252.5:c.*132+49T>C ENSP00000432455.1:n.*132+49T>C
ENST00000534549.5:c.77-4276T>C ENSP00000433206.1:n.77-4276T>C