Canonical Allele Identifier: CA401080712

Gene: UNC13D

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75830615A>G , CM000679.2:g.75830615A>G	GRCh38
NC_000017.10:g.73826696A>G , CM000679.1:g.73826696A>G	GRCh37
NC_000017.9:g.71338291A>G	NCBI36
NG_007266.1:g.19103T>C , LRG_122:g.19103T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_199242.3:c.2672T>C MANE Select	NP_954712.1:p.Leu891Pro
ENST00000207549.9:c.2672T>C MANE Select	ENSP00000207549.3:p.Leu891Pro
NM_199242.2:c.2672T>C , LRG_122t1:c.2672T>C	NP_954712.1:p.Leu891Pro
ENST00000207549.8:c.2672T>C	ENSP00000207549.3:p.Leu891Pro
ENST00000412096.6:c.2672T>C	ENSP00000388093.1:p.Leu891Pro
ENST00000590856.1:n.47T>C
ENST00000699510.1:c.1538T>C	ENSP00000514405.1:p.Leu513Pro
XM_011524504.1:c.2741T>C	XP_011522806.1:p.Leu914Pro
XM_011524504.2:c.2741T>C	XP_011522806.1:p.Leu914Pro
XM_011524505.1:c.2741T>C	XP_011522807.1:p.Leu914Pro
XM_011524506.1:c.2738T>C	XP_011522808.1:p.Leu913Pro
XM_011524507.1:c.2132T>C	XP_011522809.1:p.Leu711Pro
XM_011524507.2:c.2132T>C	XP_011522809.1:p.Leu711Pro
XM_011524508.1:c.2132T>C	XP_011522810.1:p.Leu711Pro
XM_024450640.1:c.2132T>C	XP_024306408.1:p.Leu711Pro