Canonical Allele Identifier: CA8772349

Gene: UNC13D

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75830086G>A , CM000679.2:g.75830086G>A	GRCh38
NC_000017.10:g.73826167G>A , CM000679.1:g.73826167G>A	GRCh37
NC_000017.9:g.71337762G>A	NCBI36
NG_007266.1:g.19632C>T , LRG_122:g.19632C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_199242.3:c.2896C>T MANE Select	NP_954712.1:p.Arg966Trp
ENST00000207549.9:c.2896C>T MANE Select	ENSP00000207549.3:p.Arg966Trp
NM_199242.2:c.2896C>T , LRG_122t1:c.2896C>T	NP_954712.1:p.Arg966Trp
ENST00000207549.8:c.2896C>T	ENSP00000207549.3:p.Arg966Trp
ENST00000412096.6:c.2896C>T	ENSP00000388093.1:p.Arg966Trp
ENST00000586519.1:c.76+276C>T	ENSP00000466149.1:n.76+276C>T
ENST00000589670.5:c.62C>T
ENST00000590856.1:n.271C>T
ENST00000699510.1:c.1762C>T	ENSP00000514405.1:p.Arg588Trp
XM_011524504.1:c.2965C>T	XP_011522806.1:p.Arg989Trp
XM_011524504.2:c.2965C>T	XP_011522806.1:p.Arg989Trp
XM_011524505.1:c.2965C>T	XP_011522807.1:p.Arg989Trp
XM_011524506.1:c.2962C>T	XP_011522808.1:p.Arg988Trp
XM_011524507.1:c.2356C>T	XP_011522809.1:p.Arg786Trp
XM_011524507.2:c.2356C>T	XP_011522809.1:p.Arg786Trp
XM_011524508.1:c.2356C>T	XP_011522810.1:p.Arg786Trp
XM_024450640.1:c.2356C>T	XP_024306408.1:p.Arg786Trp