Canonical Allele Identifier: CA8772319
Community Standard Title: NM_199242.3(UNC13D):c.2973G>A (p.Pro991=)
Gene: UNC13D HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.75828965C>T , CM000679.2:g.75828965C>T GRCh38
NC_000017.10:g.73825046C>T , CM000679.1:g.73825046C>T GRCh37
NC_000017.9:g.71336641C>T NCBI36
NG_007266.1:g.20753G>A , LRG_122:g.20753G>A

Transcript Alleles

HGVS Amino-acid Change
NM_199242.3:c.2973G>A MANE Select NP_954712.1:p.Pro991=
ENST00000207549.9:c.2973G>A MANE Select ENSP00000207549.3:p.Pro991=
NM_199242.2:c.2973G>A , LRG_122t1:c.2973G>A NP_954712.1:p.Pro991=
ENST00000207549.8:c.2973G>A ENSP00000207549.3:p.Pro991=
ENST00000412096.6:c.2973G>A ENSP00000388093.1:p.Pro991=
ENST00000586519.1:c.95G>A ENSP00000466149.1:p.Arg32His
ENST00000589670.5:c.139G>A
ENST00000699510.1:c.1839G>A ENSP00000514405.1:p.Pro613=
XM_011524504.1:c.3042G>A XP_011522806.1:p.Pro1014=
XM_011524504.2:c.3042G>A XP_011522806.1:p.Pro1014=
XM_011524505.1:c.3042G>A XP_011522807.1:p.Pro1014=
XM_011524506.1:c.3039G>A XP_011522808.1:p.Pro1013=
XM_011524507.1:c.2433G>A XP_011522809.1:p.Pro811=
XM_011524507.2:c.2433G>A XP_011522809.1:p.Pro811=
XM_011524508.1:c.2433G>A XP_011522810.1:p.Pro811=
XM_024450640.1:c.2433G>A XP_024306408.1:p.Pro811=