Canonical Allele Identifier: CA379924063

Gene: ANO5

Linked Data

• MyVariant Identifiers: chr11:g.22294534A>T (hg19) ; chr11:g.22272988A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.22272988A>T , CM000673.2:g.22272988A>T	GRCh38
NC_000011.9:g.22294534A>T , CM000673.1:g.22294534A>T	GRCh37
NC_000011.8:g.22251110A>T	NCBI36
NG_015844.1:g.84813A>T , LRG_868:g.84813A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000532043.2:n.251A>T
ENST00000682266.1:c.1784A>T	ENSP00000507766.1:p.Asn595Ile
ENST00000682341.1:c.2192A>T	ENSP00000508251.1:p.Asn731Ile
ENST00000683197.1:c.2192A>T	ENSP00000507641.1:p.Asn731Ile
ENST00000683411.1:c.1784A>T	ENSP00000508397.1:p.Asn595Ile
ENST00000683437.1:c.1784A>T	ENSP00000508408.1:p.Asn595Ile
ENST00000683613.1:n.3228A>T
ENST00000684663.1:c.2189A>T	ENSP00000508009.1:p.Asn730Ile
ENST00000324559.9:c.2234A>T MANE Select	ENSP00000315371.9:p.Asn745Ile
ENST00000648804.1:n.2569A>T
ENST00000324559.8:c.2234A>T	ENSP00000315371.8:p.Asn745Ile
ENST00000532043.1:n.251A>T
NM_001142649.1:c.2231A>T	NP_001136121.1:p.Asn744Ile
NM_213599.2:c.2234A>T , LRG_868t1:c.2234A>T	NP_998764.1:p.Asn745Ile
XM_005252820.2:c.2192A>T	XP_005252877.2:p.Asn731Ile
XM_005252821.2:c.2189A>T	XP_005252878.2:p.Asn730Ile
XM_005252822.3:c.2156A>T	XP_005252879.1:p.Asn719Ile
XM_005252823.3:c.2153A>T	XP_005252880.1:p.Asn718Ile
XM_011519949.1:c.2141A>T	XP_011518251.1:p.Asn714Ile
XM_005252820.3:c.2192A>T	XP_005252877.2:p.Asn731Ile
XM_005252821.3:c.2189A>T	XP_005252878.2:p.Asn730Ile
XM_005252822.4:c.2156A>T	XP_005252879.1:p.Asn719Ile
XM_011519949.2:c.2141A>T	XP_011518251.1:p.Asn714Ile
NM_001142649.2:c.2231A>T	NP_001136121.1:p.Asn744Ile
NM_213599.3:c.2234A>T MANE Select	NP_998764.1:p.Asn745Ile