Canonical Allele Identifier: CA5923594

Gene: ANO5

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.22276160T>C , CM000673.2:g.22276160T>C	GRCh38
NC_000011.9:g.22297706T>C , CM000673.1:g.22297706T>C	GRCh37
NC_000011.8:g.22254282T>C	NCBI36
NG_015844.1:g.87985T>C , LRG_868:g.87985T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_213599.3:c.2481T>C MANE Select	NP_998764.1:p.His827=
ENST00000324559.9:c.2481T>C MANE Select	ENSP00000315371.9:p.His827=
NM_001142649.1:c.2478T>C	NP_001136121.1:p.His826=
NM_001142649.2:c.2478T>C	NP_001136121.1:p.His826=
NM_213599.2:c.2481T>C , LRG_868t1:c.2481T>C	NP_998764.1:p.His827=
ENST00000324559.8:c.2481T>C	ENSP00000315371.8:p.His827=
ENST00000532043.1:n.498T>C
ENST00000532043.2:n.498T>C
ENST00000648804.1:n.2816T>C
ENST00000682266.1:c.2031T>C	ENSP00000507766.1:p.His677=
ENST00000682341.1:c.2439T>C	ENSP00000508251.1:p.His813=
ENST00000683197.1:c.2372+1413T>C	ENSP00000507641.1:n.2372+1413T>C
ENST00000683411.1:c.2031T>C	ENSP00000508397.1:p.His677=
ENST00000683437.1:c.2031T>C	ENSP00000508408.1:p.His677=
ENST00000683613.1:n.3475T>C
ENST00000684663.1:c.2436T>C	ENSP00000508009.1:p.His812=
XM_005252820.2:c.2439T>C	XP_005252877.2:p.His813=
XM_005252820.3:c.2439T>C	XP_005252877.2:p.His813=
XM_005252821.2:c.2436T>C	XP_005252878.2:p.His812=
XM_005252821.3:c.2436T>C	XP_005252878.2:p.His812=
XM_005252822.3:c.2403T>C	XP_005252879.1:p.His801=
XM_005252822.4:c.2403T>C	XP_005252879.1:p.His801=
XM_005252823.3:c.2400T>C	XP_005252880.1:p.His800=
XM_011519949.1:c.2388T>C	XP_011518251.1:p.His796=
XM_011519949.2:c.2388T>C	XP_011518251.1:p.His796=