Canonical Allele Identifier: CA401075336
Community Standard Title: NM_199242.3(UNC13D):c.2983G>T (p.Ala995Ser)
Gene: UNC13D HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.75828955C>A , CM000679.2:g.75828955C>A GRCh38
NC_000017.10:g.73825036C>A , CM000679.1:g.73825036C>A GRCh37
NC_000017.9:g.71336631C>A NCBI36
NG_007266.1:g.20763G>T , LRG_122:g.20763G>T

Transcript Alleles

HGVS Amino-acid Change
NM_199242.3:c.2983G>T MANE Select NP_954712.1:p.Ala995Ser
ENST00000207549.9:c.2983G>T MANE Select ENSP00000207549.3:p.Ala995Ser
NM_199242.2:c.2983G>T , LRG_122t1:c.2983G>T NP_954712.1:p.Ala995Ser
ENST00000207549.8:c.2983G>T ENSP00000207549.3:p.Ala995Ser
ENST00000412096.6:c.2983G>T ENSP00000388093.1:p.Ala995Ser
ENST00000586519.1:c.105G>T ENSP00000466149.1:p.Arg35Ser
ENST00000589670.5:c.149G>T
ENST00000699510.1:c.1849G>T ENSP00000514405.1:p.Ala617Ser
XM_011524504.1:c.3052G>T XP_011522806.1:p.Ala1018Ser
XM_011524504.2:c.3052G>T XP_011522806.1:p.Ala1018Ser
XM_011524505.1:c.3052G>T XP_011522807.1:p.Ala1018Ser
XM_011524506.1:c.3049G>T XP_011522808.1:p.Ala1017Ser
XM_011524507.1:c.2443G>T XP_011522809.1:p.Ala815Ser
XM_011524507.2:c.2443G>T XP_011522809.1:p.Ala815Ser
XM_011524508.1:c.2443G>T XP_011522810.1:p.Ala815Ser
XM_024450640.1:c.2443G>T XP_024306408.1:p.Ala815Ser