Canonical Allele Identifier: CA401099194
Gene: UNC13D HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.75836347C>A , CM000679.2:g.75836347C>A GRCh38
NC_000017.10:g.73832428C>A , CM000679.1:g.73832428C>A GRCh37
NC_000017.9:g.71344023C>A NCBI36
NG_007266.1:g.13371G>T , LRG_122:g.13371G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000699510.1:c.316G>T ENSP00000514405.1:p.Ala106Ser
ENST00000699511.1:c.558G>T
ENST00000207549.9:c.1381G>T MANE Select ENSP00000207549.3:p.Ala461Ser
ENST00000207549.8:c.1381G>T ENSP00000207549.3:p.Ala461Ser
ENST00000412096.6:c.1381G>T ENSP00000388093.1:p.Ala461Ser
ENST00000586147.1:c.118-91G>T ENSP00000466543.1:n.118-91G>T
ENST00000587105.1:c.500G>T
ENST00000591563.5:n.1651G>T
NM_199242.2:c.1381G>T , LRG_122t1:c.1381G>T NP_954712.1:p.Ala461Ser
XM_011524504.1:c.1381G>T XP_011522806.1:p.Ala461Ser
XM_011524505.1:c.1381G>T XP_011522807.1:p.Ala461Ser
XM_011524506.1:c.1378G>T XP_011522808.1:p.Ala460Ser
XM_011524507.1:c.772G>T XP_011522809.1:p.Ala258Ser
XM_011524508.1:c.772G>T XP_011522810.1:p.Ala258Ser
XM_011524504.2:c.1381G>T XP_011522806.1:p.Ala461Ser
XM_011524507.2:c.772G>T XP_011522809.1:p.Ala258Ser
XM_024450640.1:c.772G>T XP_024306408.1:p.Ala258Ser
NM_199242.3:c.1381G>T MANE Select NP_954712.1:p.Ala461Ser