Canonical Allele Identifier: CA233663
Community Standard Title: NM_018451.5(CENPJ):c.2992-18G>T
Gene: CENPJ HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.24892885C>A , CM000675.2:g.24892885C>A GRCh38
NC_000013.10:g.25467023C>A , CM000675.1:g.25467023C>A GRCh37
NC_000013.9:g.24365023C>A NCBI36
NG_009165.2:g.35063G>T

Transcript Alleles

HGVS Amino-acid Change
NM_018451.5:c.2992-18G>T MANE Select NP_060921.3:n.2992-18G>T
ENST00000381884.9:c.2992-18G>T MANE Select ENSP00000371308.4:n.2992-18G>T
NM_018451.4:c.2992-18G>T NP_060921.3:n.2992-18G>T
NR_047594.1:n.3187-18G>T
NR_047594.2:n.3159-18G>T
NR_047595.1:n.3187-18G>T
NR_047595.2:n.3159-18G>T
ENST00000381884.8:c.2992-18G>T ENSP00000371308.4:n.2992-18G>T
ENST00000418179.1:c.236-18G>T
ENST00000545981.5:c.2992-18G>T ENSP00000441090.2:n.2992-18G>T
ENST00000545981.6:c.2992-18G>T ENSP00000441090.2:n.2992-18G>T
ENST00000616936.4:c.2992-18G>T ENSP00000477511.1:n.2992-18G>T
XM_011535149.1:c.2992-18G>T XP_011533451.1:n.2992-18G>T
XM_011535149.2:c.2992-18G>T XP_011533451.1:n.2992-18G>T
XM_011535150.1:c.2992-18G>T XP_011533452.1:n.2992-18G>T
XM_011535150.2:c.2992-18G>T XP_011533452.1:n.2992-18G>T
XM_011535151.1:c.2992-16G>T XP_011533453.1:n.2992-16G>T
XR_941627.1:n.3187-18G>T
XR_941628.1:n.3408-18G>T