Canonical Allele Identifier: CA218757794

Gene: ANO5

Linked Data

• ClinVar Variation Id: 507738
• ClinVar RCV Id: RCV000612695 ; RCV000734665 ; RCV002062997
• dbSNP Id: rs997655691
• gnomAD v4: 11-22255412-C-T
• MyVariant Identifiers: chr11:g.22276958C>T (hg19) ; chr11:g.22255412C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.22255412C>T , CM000673.2:g.22255412C>T	GRCh38
NC_000011.9:g.22276958C>T , CM000673.1:g.22276958C>T	GRCh37
NC_000011.8:g.22233534C>T	NCBI36
NG_015844.1:g.67237C>T , LRG_868:g.67237C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682089.1:n.542C>T
ENST00000682266.1:c.772C>T	ENSP00000507766.1:p.Leu258=
ENST00000682341.1:c.1180C>T	ENSP00000508251.1:p.Leu394=
ENST00000682530.1:c.*1154C>T	ENSP00000506805.1:n.*1154C>T
ENST00000683197.1:c.1180C>T	ENSP00000507641.1:p.Leu394=
ENST00000683411.1:c.772C>T	ENSP00000508397.1:p.Leu258=
ENST00000683437.1:c.772C>T	ENSP00000508408.1:p.Leu258=
ENST00000683613.1:n.2216C>T
ENST00000683834.1:n.1422C>T
ENST00000684663.1:c.1177C>T	ENSP00000508009.1:p.Leu393=
ENST00000324559.9:c.1222C>T MANE Select	ENSP00000315371.9:p.Leu408=
ENST00000648804.1:n.1557C>T
ENST00000324559.8:c.1222C>T	ENSP00000315371.8:p.Leu408=
NM_001142649.1:c.1219C>T	NP_001136121.1:p.Leu407=
NM_213599.2:c.1222C>T , LRG_868t1:c.1222C>T	NP_998764.1:p.Leu408=
XM_005252820.2:c.1180C>T	XP_005252877.2:p.Leu394=
XM_005252821.2:c.1177C>T	XP_005252878.2:p.Leu393=
XM_005252822.3:c.1144C>T	XP_005252879.1:p.Leu382=
XM_005252823.3:c.1141C>T	XP_005252880.1:p.Leu381=
XM_011519949.1:c.1129C>T	XP_011518251.1:p.Leu377=
XM_005252820.3:c.1180C>T	XP_005252877.2:p.Leu394=
XM_005252821.3:c.1177C>T	XP_005252878.2:p.Leu393=
XM_005252822.4:c.1144C>T	XP_005252879.1:p.Leu382=
XM_011519949.2:c.1129C>T	XP_011518251.1:p.Leu377=
NM_001142649.2:c.1219C>T	NP_001136121.1:p.Leu407=
NM_213599.3:c.1222C>T MANE Select	NP_998764.1:p.Leu408=