Canonical Allele Identifier: CA501843300
Community Standard Title: NM_199242.3(UNC13D):c.2637G>A (p.Arg879=)
Gene: UNC13D HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.75830650C>T , CM000679.2:g.75830650C>T GRCh38
NC_000017.10:g.73826731C>T , CM000679.1:g.73826731C>T GRCh37
NC_000017.9:g.71338326C>T NCBI36
NG_007266.1:g.19068G>A , LRG_122:g.19068G>A

Transcript Alleles

HGVS Amino-acid Change
NM_199242.3:c.2637G>A MANE Select NP_954712.1:p.Arg879=
ENST00000207549.9:c.2637G>A MANE Select ENSP00000207549.3:p.Arg879=
NM_199242.2:c.2637G>A , LRG_122t1:c.2637G>A NP_954712.1:p.Arg879=
ENST00000207549.8:c.2637G>A ENSP00000207549.3:p.Arg879=
ENST00000412096.6:c.2637G>A ENSP00000388093.1:p.Arg879=
ENST00000590856.1:n.12G>A
ENST00000699510.1:c.1503G>A ENSP00000514405.1:p.Arg501=
XM_011524504.1:c.2706G>A XP_011522806.1:p.Arg902=
XM_011524504.2:c.2706G>A XP_011522806.1:p.Arg902=
XM_011524505.1:c.2706G>A XP_011522807.1:p.Arg902=
XM_011524506.1:c.2703G>A XP_011522808.1:p.Arg901=
XM_011524507.1:c.2097G>A XP_011522809.1:p.Arg699=
XM_011524507.2:c.2097G>A XP_011522809.1:p.Arg699=
XM_011524508.1:c.2097G>A XP_011522810.1:p.Arg699=
XM_024450640.1:c.2097G>A XP_024306408.1:p.Arg699=