Canonical Allele Identifier: CA5270951

Gene: LRRC8A

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.128908967T>C , CM000671.2:g.128908967T>C	GRCh38
NC_000009.11:g.131671246T>C , CM000671.1:g.131671246T>C	GRCh37
NC_000009.10:g.130711067T>C	NCBI36
NG_009630.1:g.31856T>C , LRG_80:g.31856T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372600.9:c.1803T>C MANE Select	ENSP00000361682.4:p.Cys601=
ENST00000259324.5:c.1803T>C	ENSP00000259324.5:p.Cys601=
ENST00000372599.7:c.1803T>C	ENSP00000361680.3:p.Cys601=
ENST00000372600.8:c.1803T>C	ENSP00000361682.4:p.Cys601=
NM_001127244.1:c.1803T>C	NP_001120716.1:p.Cys601=
NM_001127245.1:c.1803T>C	NP_001120717.1:p.Cys601=
NM_019594.3:c.1803T>C , LRG_80t1:c.1803T>C	NP_062540.2:p.Cys601=
XM_005252095.2:c.1803T>C	XP_005252152.1:p.Cys601=
XM_005252096.2:c.1803T>C	XP_005252153.1:p.Cys601=
XM_006717186.2:c.1803T>C	XP_006717249.1:p.Cys601=
XM_011518863.1:c.1803T>C	XP_011517165.1:p.Cys601=
XM_011518864.1:c.1803T>C	XP_011517166.1:p.Cys601=
XM_011518865.1:c.1803T>C	XP_011517167.1:p.Cys601=
XM_005252096.4:c.1803T>C	XP_005252153.1:p.Cys601=
XM_011518864.2:c.1803T>C	XP_011517166.1:p.Cys601=
XM_011518865.2:c.1803T>C	XP_011517167.1:p.Cys601=
NM_001127245.2:c.1803T>C	NP_001120717.1:p.Cys601=
NM_001127244.2:c.1803T>C	NP_001120716.1:p.Cys601=
NM_019594.4:c.1803T>C MANE Select	NP_062540.2:p.Cys601=