Canonical Allele Identifier: CA379920876

Gene: ANO5

Linked Data

• MyVariant Identifiers: chr11:g.22271894A>T (hg19) ; chr11:g.22250348A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.22250348A>T , CM000673.2:g.22250348A>T	GRCh38
NC_000011.9:g.22271894A>T , CM000673.1:g.22271894A>T	GRCh37
NC_000011.8:g.22228470A>T	NCBI36
NG_015844.1:g.62173A>T , LRG_868:g.62173A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682089.1:n.310A>T
ENST00000682266.1:c.540A>T	ENSP00000507766.1:p.Leu180Phe
ENST00000682341.1:c.948A>T	ENSP00000508251.1:p.Leu316Phe
ENST00000682530.1:c.*922A>T	ENSP00000506805.1:n.*922A>T
ENST00000683197.1:c.948A>T	ENSP00000507641.1:p.Leu316Phe
ENST00000683411.1:c.540A>T	ENSP00000508397.1:p.Leu180Phe
ENST00000683437.1:c.540A>T	ENSP00000508408.1:p.Leu180Phe
ENST00000683613.1:n.1984A>T
ENST00000683834.1:n.1190A>T
ENST00000684663.1:c.945A>T	ENSP00000508009.1:p.Leu315Phe
ENST00000324559.9:c.990A>T MANE Select	ENSP00000315371.9:p.Leu330Phe
ENST00000648804.1:n.1325A>T
ENST00000324559.8:c.990A>T	ENSP00000315371.8:p.Leu330Phe
NM_001142649.1:c.987A>T	NP_001136121.1:p.Leu329Phe
NM_213599.2:c.990A>T , LRG_868t1:c.990A>T	NP_998764.1:p.Leu330Phe
XM_005252820.2:c.948A>T	XP_005252877.2:p.Leu316Phe
XM_005252821.2:c.945A>T	XP_005252878.2:p.Leu315Phe
XM_005252822.3:c.912A>T	XP_005252879.1:p.Leu304Phe
XM_005252823.3:c.909A>T	XP_005252880.1:p.Leu303Phe
XM_011519949.1:c.897A>T	XP_011518251.1:p.Leu299Phe
XM_005252820.3:c.948A>T	XP_005252877.2:p.Leu316Phe
XM_005252821.3:c.945A>T	XP_005252878.2:p.Leu315Phe
XM_005252822.4:c.912A>T	XP_005252879.1:p.Leu304Phe
XM_011519949.2:c.897A>T	XP_011518251.1:p.Leu299Phe
NM_001142649.2:c.987A>T	NP_001136121.1:p.Leu329Phe
NM_213599.3:c.990A>T MANE Select	NP_998764.1:p.Leu330Phe