Canonical Allele Identifier: CA502049648

Gene: UNC13D

Linked Data

• dbSNP Id: rs572194095
• gnomAD v3: 17-75835427-G-C
• gnomAD v4: 17-75835427-G-C
• MyVariant Identifiers: chr17:g.73831508G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75835427G>C , CM000679.2:g.75835427G>C	GRCh38
NC_000017.10:g.73831508G>C , CM000679.1:g.73831508G>C	GRCh37
NC_000017.9:g.71343103G>C	NCBI36
NG_007266.1:g.14291C>G , LRG_122:g.14291C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000699510.1:c.765C>G	ENSP00000514405.1:p.Arg255=
ENST00000207549.9:c.1830C>G MANE Select	ENSP00000207549.3:p.Arg610=
ENST00000207549.8:c.1830C>G	ENSP00000207549.3:p.Arg610=
ENST00000412096.6:c.1830C>G	ENSP00000388093.1:p.Arg610=
ENST00000586147.1:c.558C>G	ENSP00000466543.1:p.Arg186=
ENST00000591563.5:n.2100C>G
NM_199242.2:c.1830C>G , LRG_122t1:c.1830C>G	NP_954712.1:p.Arg610=
XM_011524504.1:c.1830C>G	XP_011522806.1:p.Arg610=
XM_011524505.1:c.1830C>G	XP_011522807.1:p.Arg610=
XM_011524506.1:c.1827C>G	XP_011522808.1:p.Arg609=
XM_011524507.1:c.1221C>G	XP_011522809.1:p.Arg407=
XM_011524508.1:c.1221C>G	XP_011522810.1:p.Arg407=
XM_011524504.2:c.1830C>G	XP_011522806.1:p.Arg610=
XM_011524507.2:c.1221C>G	XP_011522809.1:p.Arg407=
XM_024450640.1:c.1221C>G	XP_024306408.1:p.Arg407=
NM_199242.3:c.1830C>G MANE Select	NP_954712.1:p.Arg610=