Canonical Allele Identifier: CA2612837364

Gene: ANO5

Linked Data

• gnomAD v4: 11-22273107-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.22273107A>C , CM000673.2:g.22273107A>C	GRCh38
NC_000011.9:g.22294653A>C , CM000673.1:g.22294653A>C	GRCh37
NC_000011.8:g.22251229A>C	NCBI36
NG_015844.1:g.84932A>C , LRG_868:g.84932A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000532043.2:n.252+118A>C
ENST00000682266.1:c.1785+118A>C	ENSP00000507766.1:n.1785+118A>C
ENST00000682341.1:c.2193+118A>C	ENSP00000508251.1:n.2193+118A>C
ENST00000683197.1:c.2193+118A>C	ENSP00000507641.1:n.2193+118A>C
ENST00000683411.1:c.1785+118A>C	ENSP00000508397.1:n.1785+118A>C
ENST00000683437.1:c.1785+118A>C	ENSP00000508408.1:n.1785+118A>C
ENST00000683613.1:n.3229+118A>C
ENST00000684663.1:c.2190+118A>C	ENSP00000508009.1:n.2190+118A>C
ENST00000324559.9:c.2235+118A>C MANE Select	ENSP00000315371.9:n.2235+118A>C
ENST00000648804.1:n.2570+118A>C
ENST00000324559.8:c.2235+118A>C	ENSP00000315371.8:n.2235+118A>C
ENST00000532043.1:n.252+118A>C
NM_001142649.1:c.2232+118A>C	NP_001136121.1:n.2232+118A>C
NM_213599.2:c.2235+118A>C , LRG_868t1:c.2235+118A>C	NP_998764.1:n.2235+118A>C
XM_005252820.2:c.2193+118A>C	XP_005252877.2:n.2193+118A>C
XM_005252821.2:c.2190+118A>C	XP_005252878.2:n.2190+118A>C
XM_005252822.3:c.2157+118A>C	XP_005252879.1:n.2157+118A>C
XM_005252823.3:c.2154+118A>C	XP_005252880.1:n.2154+118A>C
XM_011519949.1:c.2142+118A>C	XP_011518251.1:n.2142+118A>C
XM_005252820.3:c.2193+118A>C	XP_005252877.2:n.2193+118A>C
XM_005252821.3:c.2190+118A>C	XP_005252878.2:n.2190+118A>C
XM_005252822.4:c.2157+118A>C	XP_005252879.1:n.2157+118A>C
XM_011519949.2:c.2142+118A>C	XP_011518251.1:n.2142+118A>C
NM_001142649.2:c.2232+118A>C	NP_001136121.1:n.2232+118A>C
NM_213599.3:c.2235+118A>C MANE Select	NP_998764.1:n.2235+118A>C