Canonical Allele Identifier: CA401092226
Community Standard Title: NM_199242.3(UNC13D):c.1825C>T (p.Gln609Ter)
Gene: UNC13D HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.75835432G>A , CM000679.2:g.75835432G>A GRCh38
NC_000017.10:g.73831513G>A , CM000679.1:g.73831513G>A GRCh37
NC_000017.9:g.71343108G>A NCBI36
NG_007266.1:g.14286C>T , LRG_122:g.14286C>T

Transcript Alleles

HGVS Amino-acid Change
NM_199242.3:c.1825C>T MANE Select NP_954712.1:p.Gln609Ter
ENST00000207549.9:c.1825C>T MANE Select ENSP00000207549.3:p.Gln609Ter
NM_199242.2:c.1825C>T , LRG_122t1:c.1825C>T NP_954712.1:p.Gln609Ter
ENST00000207549.8:c.1825C>T ENSP00000207549.3:p.Gln609Ter
ENST00000412096.6:c.1825C>T ENSP00000388093.1:p.Gln609Ter
ENST00000586147.1:c.553C>T ENSP00000466543.1:p.Gln185Ter
ENST00000591563.5:n.2095C>T
ENST00000699510.1:c.760C>T ENSP00000514405.1:p.Gln254Ter
XM_011524504.1:c.1825C>T XP_011522806.1:p.Gln609Ter
XM_011524504.2:c.1825C>T XP_011522806.1:p.Gln609Ter
XM_011524505.1:c.1825C>T XP_011522807.1:p.Gln609Ter
XM_011524506.1:c.1822C>T XP_011522808.1:p.Gln608Ter
XM_011524507.1:c.1216C>T XP_011522809.1:p.Gln406Ter
XM_011524507.2:c.1216C>T XP_011522809.1:p.Gln406Ter
XM_011524508.1:c.1216C>T XP_011522810.1:p.Gln406Ter
XM_024450640.1:c.1216C>T XP_024306408.1:p.Gln406Ter