Canonical Allele Identifier: CA404727576

Gene: UNC13A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.17648579G>C , CM000681.2:g.17648579G>C	GRCh38
NC_000019.9:g.17759388G>C , CM000681.1:g.17759388G>C	GRCh37
NC_000019.8:g.17620388G>C	NCBI36
NG_052872.1:g.44766C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001080421.3:c.1668C>G MANE Select	NP_001073890.2:p.Phe556Leu
ENST00000519716.7:c.1668C>G MANE Select	ENSP00000429562.2:p.Phe556Leu
NM_001080421.2:c.1668C>G	NP_001073890.2:p.Phe556Leu
NM_001387021.1:c.1662C>G	NP_001373950.1:p.Phe554Leu
NM_001387022.1:c.1662C>G	NP_001373951.1:p.Phe554Leu
NM_001387023.1:c.1662C>G	NP_001373952.1:p.Phe554Leu
ENST00000252773.11:c.1668C>G	ENSP00000252773.8:p.Phe556Leu
ENST00000519716.6:c.1668C>G	ENSP00000429562.2:p.Phe556Leu
ENST00000550896.1:c.1662C>G	ENSP00000446831.1:p.Phe554Leu
ENST00000551649.5:c.1668C>G	ENSP00000447236.1:p.Phe556Leu
ENST00000552293.5:c.1668C>G	ENSP00000447572.1:p.Phe556Leu
XM_011527809.1:c.1662C>G	XP_011526111.1:p.Phe554Leu
XM_011527810.1:c.1638C>G	XP_011526112.1:p.Phe546Leu
XM_011527810.2:c.1638C>G	XP_011526112.1:p.Phe546Leu
XM_011527811.1:c.1668C>G	XP_011526113.1:p.Phe556Leu
XM_011527811.2:c.1668C>G	XP_011526113.1:p.Phe556Leu
XM_011527812.1:c.909C>G	XP_011526114.1:p.Phe303Leu
XM_011527813.1:c.1662C>G	XP_011526115.1:p.Phe554Leu
XM_017026502.1:c.1668C>G	XP_016881991.1:p.Phe556Leu