Canonical Allele Identifier: CA401098692

Gene: UNC13D

Linked Data

• MyVariant Identifiers: chr17:g.73832306T>C (hg19) ; chr17:g.75836225T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75836225T>C , CM000679.2:g.75836225T>C	GRCh38
NC_000017.10:g.73832306T>C , CM000679.1:g.73832306T>C	GRCh37
NC_000017.9:g.71343901T>C	NCBI36
NG_007266.1:g.13493A>G , LRG_122:g.13493A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699510.1:c.356A>G	ENSP00000514405.1:p.Gln119Arg
ENST00000699511.1:c.598A>G
ENST00000207549.9:c.1421A>G MANE Select	ENSP00000207549.3:p.Gln474Arg
ENST00000207549.8:c.1421A>G	ENSP00000207549.3:p.Gln474Arg
ENST00000412096.6:c.1421A>G	ENSP00000388093.1:p.Gln474Arg
ENST00000586147.1:c.149A>G	ENSP00000466543.1:p.Gln50Arg
ENST00000587105.1:c.540A>G
ENST00000591563.5:n.1691A>G
NM_199242.2:c.1421A>G , LRG_122t1:c.1421A>G	NP_954712.1:p.Gln474Arg
XM_011524504.1:c.1421A>G	XP_011522806.1:p.Gln474Arg
XM_011524505.1:c.1421A>G	XP_011522807.1:p.Gln474Arg
XM_011524506.1:c.1418A>G	XP_011522808.1:p.Gln473Arg
XM_011524507.1:c.812A>G	XP_011522809.1:p.Gln271Arg
XM_011524508.1:c.812A>G	XP_011522810.1:p.Gln271Arg
XM_011524504.2:c.1421A>G	XP_011522806.1:p.Gln474Arg
XM_011524507.2:c.812A>G	XP_011522809.1:p.Gln271Arg
XM_024450640.1:c.812A>G	XP_024306408.1:p.Gln271Arg
NM_199242.3:c.1421A>G MANE Select	NP_954712.1:p.Gln474Arg