Canonical Allele Identifier: CA473404197

Gene: ANO5

Linked Data

• dbSNP Id: rs1406820039
• gnomAD v2: 11-22271909-C-T
• gnomAD v3: 11-22250363-C-T
• gnomAD v4: 11-22250363-C-T
• MyVariant Identifiers: chr11:g.22271909C>T (hg19) ; chr11:g.22250363C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.22250363C>T , CM000673.2:g.22250363C>T	GRCh38
NC_000011.9:g.22271909C>T , CM000673.1:g.22271909C>T	GRCh37
NC_000011.8:g.22228485C>T	NCBI36
NG_015844.1:g.62188C>T , LRG_868:g.62188C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682089.1:n.325C>T
ENST00000682266.1:c.555C>T	ENSP00000507766.1:p.Asn185=
ENST00000682341.1:c.963C>T	ENSP00000508251.1:p.Asn321=
ENST00000682530.1:c.*937C>T	ENSP00000506805.1:n.*937C>T
ENST00000683197.1:c.963C>T	ENSP00000507641.1:p.Asn321=
ENST00000683411.1:c.555C>T	ENSP00000508397.1:p.Asn185=
ENST00000683437.1:c.555C>T	ENSP00000508408.1:p.Asn185=
ENST00000683613.1:n.1999C>T
ENST00000683834.1:n.1205C>T
ENST00000684663.1:c.960C>T	ENSP00000508009.1:p.Asn320=
ENST00000324559.9:c.1005C>T MANE Select	ENSP00000315371.9:p.Asn335=
ENST00000648804.1:n.1340C>T
ENST00000324559.8:c.1005C>T	ENSP00000315371.8:p.Asn335=
NM_001142649.1:c.1002C>T	NP_001136121.1:p.Asn334=
NM_213599.2:c.1005C>T , LRG_868t1:c.1005C>T	NP_998764.1:p.Asn335=
XM_005252820.2:c.963C>T	XP_005252877.2:p.Asn321=
XM_005252821.2:c.960C>T	XP_005252878.2:p.Asn320=
XM_005252822.3:c.927C>T	XP_005252879.1:p.Asn309=
XM_005252823.3:c.924C>T	XP_005252880.1:p.Asn308=
XM_011519949.1:c.912C>T	XP_011518251.1:p.Asn304=
XM_005252820.3:c.963C>T	XP_005252877.2:p.Asn321=
XM_005252821.3:c.960C>T	XP_005252878.2:p.Asn320=
XM_005252822.4:c.927C>T	XP_005252879.1:p.Asn309=
XM_011519949.2:c.912C>T	XP_011518251.1:p.Asn304=
NM_001142649.2:c.1002C>T	NP_001136121.1:p.Asn334=
NM_213599.3:c.1005C>T MANE Select	NP_998764.1:p.Asn335=