Canonical Allele Identifier: CA379923748

Gene: ANO5

Linked Data

• gnomAD v4: 11-22272846-C-T
• MyVariant Identifiers: chr11:g.22294392C>T (hg19) ; chr11:g.22272846C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.22272846C>T , CM000673.2:g.22272846C>T	GRCh38
NC_000011.9:g.22294392C>T , CM000673.1:g.22294392C>T	GRCh37
NC_000011.8:g.22250968C>T	NCBI36
NG_015844.1:g.84671C>T , LRG_868:g.84671C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000532043.2:n.109C>T
ENST00000682266.1:c.1642C>T	ENSP00000507766.1:p.Leu548Phe
ENST00000682341.1:c.2050C>T	ENSP00000508251.1:p.Leu684Phe
ENST00000683197.1:c.2050C>T	ENSP00000507641.1:p.Leu684Phe
ENST00000683411.1:c.1642C>T	ENSP00000508397.1:p.Leu548Phe
ENST00000683437.1:c.1642C>T	ENSP00000508408.1:p.Leu548Phe
ENST00000683613.1:n.3086C>T
ENST00000684663.1:c.2047C>T	ENSP00000508009.1:p.Leu683Phe
ENST00000324559.9:c.2092C>T MANE Select	ENSP00000315371.9:p.Leu698Phe
ENST00000648804.1:n.2427C>T
ENST00000324559.8:c.2092C>T	ENSP00000315371.8:p.Leu698Phe
ENST00000532043.1:n.109C>T
NM_001142649.1:c.2089C>T	NP_001136121.1:p.Leu697Phe
NM_213599.2:c.2092C>T , LRG_868t1:c.2092C>T	NP_998764.1:p.Leu698Phe
XM_005252820.2:c.2050C>T	XP_005252877.2:p.Leu684Phe
XM_005252821.2:c.2047C>T	XP_005252878.2:p.Leu683Phe
XM_005252822.3:c.2014C>T	XP_005252879.1:p.Leu672Phe
XM_005252823.3:c.2011C>T	XP_005252880.1:p.Leu671Phe
XM_011519949.1:c.1999C>T	XP_011518251.1:p.Leu667Phe
XM_005252820.3:c.2050C>T	XP_005252877.2:p.Leu684Phe
XM_005252821.3:c.2047C>T	XP_005252878.2:p.Leu683Phe
XM_005252822.4:c.2014C>T	XP_005252879.1:p.Leu672Phe
XM_011519949.2:c.1999C>T	XP_011518251.1:p.Leu667Phe
NM_001142649.2:c.2089C>T	NP_001136121.1:p.Leu697Phe
NM_213599.3:c.2092C>T MANE Select	NP_998764.1:p.Leu698Phe