Canonical Allele Identifier: CA401099185

Gene: UNC13D

Linked Data

• MyVariant Identifiers: chr17:g.73832427G>C (hg19) ; chr17:g.75836346G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75836346G>C , CM000679.2:g.75836346G>C	GRCh38
NC_000017.10:g.73832427G>C , CM000679.1:g.73832427G>C	GRCh37
NC_000017.9:g.71344022G>C	NCBI36
NG_007266.1:g.13372C>G , LRG_122:g.13372C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000699510.1:c.317C>G	ENSP00000514405.1:p.Ala106Gly
ENST00000699511.1:c.559C>G
ENST00000207549.9:c.1382C>G MANE Select	ENSP00000207549.3:p.Ala461Gly
ENST00000207549.8:c.1382C>G	ENSP00000207549.3:p.Ala461Gly
ENST00000412096.6:c.1382C>G	ENSP00000388093.1:p.Ala461Gly
ENST00000586147.1:c.118-90C>G	ENSP00000466543.1:n.118-90C>G
ENST00000587105.1:c.501C>G
ENST00000591563.5:n.1652C>G
NM_199242.2:c.1382C>G , LRG_122t1:c.1382C>G	NP_954712.1:p.Ala461Gly
XM_011524504.1:c.1382C>G	XP_011522806.1:p.Ala461Gly
XM_011524505.1:c.1382C>G	XP_011522807.1:p.Ala461Gly
XM_011524506.1:c.1379C>G	XP_011522808.1:p.Ala460Gly
XM_011524507.1:c.773C>G	XP_011522809.1:p.Ala258Gly
XM_011524508.1:c.773C>G	XP_011522810.1:p.Ala258Gly
XM_011524504.2:c.1382C>G	XP_011522806.1:p.Ala461Gly
XM_011524507.2:c.773C>G	XP_011522809.1:p.Ala258Gly
XM_024450640.1:c.773C>G	XP_024306408.1:p.Ala258Gly
NM_199242.3:c.1382C>G MANE Select	NP_954712.1:p.Ala461Gly