Canonical Allele Identifier: CA379920931

Gene: ANO5

Linked Data

• MyVariant Identifiers: chr11:g.22271917G>T (hg19) ; chr11:g.22250371G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.22250371G>T , CM000673.2:g.22250371G>T	GRCh38
NC_000011.9:g.22271917G>T , CM000673.1:g.22271917G>T	GRCh37
NC_000011.8:g.22228493G>T	NCBI36
NG_015844.1:g.62196G>T , LRG_868:g.62196G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682089.1:n.333G>T
ENST00000682266.1:c.563G>T	ENSP00000507766.1:p.Ser188Ile
ENST00000682341.1:c.971G>T	ENSP00000508251.1:p.Ser324Ile
ENST00000682530.1:c.*945G>T	ENSP00000506805.1:n.*945G>T
ENST00000683197.1:c.971G>T	ENSP00000507641.1:p.Ser324Ile
ENST00000683411.1:c.563G>T	ENSP00000508397.1:p.Ser188Ile
ENST00000683437.1:c.563G>T	ENSP00000508408.1:p.Ser188Ile
ENST00000683613.1:n.2007G>T
ENST00000683834.1:n.1213G>T
ENST00000684663.1:c.968G>T	ENSP00000508009.1:p.Ser323Ile
ENST00000324559.9:c.1013G>T MANE Select	ENSP00000315371.9:p.Ser338Ile
ENST00000648804.1:n.1348G>T
ENST00000324559.8:c.1013G>T	ENSP00000315371.8:p.Ser338Ile
NM_001142649.1:c.1010G>T	NP_001136121.1:p.Ser337Ile
NM_213599.2:c.1013G>T , LRG_868t1:c.1013G>T	NP_998764.1:p.Ser338Ile
XM_005252820.2:c.971G>T	XP_005252877.2:p.Ser324Ile
XM_005252821.2:c.968G>T	XP_005252878.2:p.Ser323Ile
XM_005252822.3:c.935G>T	XP_005252879.1:p.Ser312Ile
XM_005252823.3:c.932G>T	XP_005252880.1:p.Ser311Ile
XM_011519949.1:c.920G>T	XP_011518251.1:p.Ser307Ile
XM_005252820.3:c.971G>T	XP_005252877.2:p.Ser324Ile
XM_005252821.3:c.968G>T	XP_005252878.2:p.Ser323Ile
XM_005252822.4:c.935G>T	XP_005252879.1:p.Ser312Ile
XM_011519949.2:c.920G>T	XP_011518251.1:p.Ser307Ile
NM_001142649.2:c.1010G>T	NP_001136121.1:p.Ser337Ile
NM_213599.3:c.1013G>T MANE Select	NP_998764.1:p.Ser338Ile