Canonical Allele Identifier: CA401080495
Community Standard Title: NM_199242.3(UNC13D):c.2709+1G>T
Gene: UNC13D HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.75830577C>A , CM000679.2:g.75830577C>A GRCh38
NC_000017.10:g.73826658C>A , CM000679.1:g.73826658C>A GRCh37
NC_000017.9:g.71338253C>A NCBI36
NG_007266.1:g.19141G>T , LRG_122:g.19141G>T

Transcript Alleles

HGVS Amino-acid Change
NM_199242.3:c.2709+1G>T MANE Select NP_954712.1:n.2709+1G>T
ENST00000207549.9:c.2709+1G>T MANE Select ENSP00000207549.3:n.2709+1G>T
NM_199242.2:c.2709+1G>T , LRG_122t1:c.2709+1G>T NP_954712.1:n.2709+1G>T
ENST00000207549.8:c.2709+1G>T ENSP00000207549.3:n.2709+1G>T
ENST00000412096.6:c.2709+1G>T ENSP00000388093.1:n.2709+1G>T
ENST00000590856.1:n.84+1G>T
ENST00000699510.1:c.1575+1G>T ENSP00000514405.1:n.1575+1G>T
XM_011524504.1:c.2778+1G>T XP_011522806.1:n.2778+1G>T
XM_011524504.2:c.2778+1G>T XP_011522806.1:n.2778+1G>T
XM_011524505.1:c.2778+1G>T XP_011522807.1:n.2778+1G>T
XM_011524506.1:c.2775+1G>T XP_011522808.1:n.2775+1G>T
XM_011524507.1:c.2169+1G>T XP_011522809.1:n.2169+1G>T
XM_011524507.2:c.2169+1G>T XP_011522809.1:n.2169+1G>T
XM_011524508.1:c.2169+1G>T XP_011522810.1:n.2169+1G>T
XM_024450640.1:c.2169+1G>T XP_024306408.1:n.2169+1G>T