Canonical Allele Identifier: CA401109960

Gene: UNC13D

Linked Data

• MyVariant Identifiers: chr17:g.73836588C>G (hg19) ; chr17:g.75840507C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75840507C>G , CM000679.2:g.75840507C>G	GRCh38
NC_000017.10:g.73836588C>G , CM000679.1:g.73836588C>G	GRCh37
NC_000017.9:g.71348183C>G	NCBI36
NG_007266.1:g.9211G>C , LRG_122:g.9211G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000585574.6:c.*175G>C	ENSP00000514389.1:n.*175G>C
ENST00000587504.6:c.696G>C	ENSP00000514388.1:p.Gln232His
ENST00000592386.6:c.735G>C	ENSP00000466826.2:p.Gln245His
ENST00000207549.9:c.753G>C MANE Select	ENSP00000207549.3:p.Gln251His
ENST00000207549.8:c.753G>C	ENSP00000207549.3:p.Gln251His
ENST00000412096.6:c.753G>C	ENSP00000388093.1:p.Gln251His
ENST00000586147.1:c.117+3714G>C	ENSP00000466543.1:n.117+3714G>C
ENST00000587504.5:n.718G>C
ENST00000590762.5:c.696G>C	ENSP00000467653.1:p.Gln232His
ENST00000591563.5:n.834G>C
ENST00000592386.5:c.732G>C	ENSP00000466826.1:p.Gln244His
NM_199242.2:c.753G>C , LRG_122t1:c.753G>C	NP_954712.1:p.Gln251His
XM_011524504.1:c.753G>C	XP_011522806.1:p.Gln251His
XM_011524505.1:c.753G>C	XP_011522807.1:p.Gln251His
XM_011524506.1:c.753G>C	XP_011522808.1:p.Gln251His
XM_011524507.1:c.144G>C	XP_011522809.1:p.Gln48His
XM_011524508.1:c.144G>C	XP_011522810.1:p.Gln48His
XM_011524504.2:c.753G>C	XP_011522806.1:p.Gln251His
XM_011524507.2:c.144G>C	XP_011522809.1:p.Gln48His
XM_024450640.1:c.144G>C	XP_024306408.1:p.Gln48His
NM_199242.3:c.753G>C MANE Select	NP_954712.1:p.Gln251His