Canonical Allele Identifier: CA379919374

Gene: ANO5

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.22227334G>C , CM000673.2:g.22227334G>C	GRCh38
NC_000011.9:g.22248880G>C , CM000673.1:g.22248880G>C	GRCh37
NC_000011.8:g.22205456G>C	NCBI36
NG_015844.1:g.39159G>C , LRG_868:g.39159G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_213599.3:c.396G>C MANE Select	NP_998764.1:p.Lys132Asn
ENST00000324559.9:c.396G>C MANE Select	ENSP00000315371.9:p.Lys132Asn
NM_001142649.1:c.393G>C	NP_001136121.1:p.Lys131Asn
NM_001142649.2:c.393G>C	NP_001136121.1:p.Lys131Asn
NM_213599.2:c.396G>C , LRG_868t1:c.396G>C	NP_998764.1:p.Lys132Asn
ENST00000324559.8:c.396G>C	ENSP00000315371.8:p.Lys132Asn
ENST00000648804.1:n.961G>C
ENST00000682266.1:c.-55G>C	ENSP00000507766.1:n.-55G>C
ENST00000682341.1:c.354G>C	ENSP00000508251.1:p.Lys118Asn
ENST00000682530.1:c.*328G>C	ENSP00000506805.1:n.*328G>C
ENST00000682684.1:n.775G>C
ENST00000683197.1:c.354G>C	ENSP00000507641.1:p.Lys118Asn
ENST00000683411.1:c.-55G>C	ENSP00000508397.1:n.-55G>C
ENST00000683437.1:c.-55G>C	ENSP00000508408.1:n.-55G>C
ENST00000683613.1:n.1390G>C
ENST00000683834.1:n.596G>C
ENST00000684663.1:c.351G>C	ENSP00000508009.1:p.Lys117Asn
XM_005252820.2:c.354G>C	XP_005252877.2:p.Lys118Asn
XM_005252820.3:c.354G>C	XP_005252877.2:p.Lys118Asn
XM_005252821.2:c.351G>C	XP_005252878.2:p.Lys117Asn
XM_005252821.3:c.351G>C	XP_005252878.2:p.Lys117Asn
XM_005252822.3:c.318G>C	XP_005252879.1:p.Lys106Asn
XM_005252822.4:c.318G>C	XP_005252879.1:p.Lys106Asn
XM_005252823.3:c.315G>C	XP_005252880.1:p.Lys105Asn
XM_011519949.1:c.303G>C	XP_011518251.1:p.Lys101Asn
XM_011519949.2:c.303G>C	XP_011518251.1:p.Lys101Asn