Canonical Allele Identifier: CA379920909

Gene: ANO5

Linked Data

• MyVariant Identifiers: chr11:g.22271908A>C (hg19) ; chr11:g.22250362A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.22250362A>C , CM000673.2:g.22250362A>C	GRCh38
NC_000011.9:g.22271908A>C , CM000673.1:g.22271908A>C	GRCh37
NC_000011.8:g.22228484A>C	NCBI36
NG_015844.1:g.62187A>C , LRG_868:g.62187A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682089.1:n.324A>C
ENST00000682266.1:c.554A>C	ENSP00000507766.1:p.Asn185Thr
ENST00000682341.1:c.962A>C	ENSP00000508251.1:p.Asn321Thr
ENST00000682530.1:c.*936A>C	ENSP00000506805.1:n.*936A>C
ENST00000683197.1:c.962A>C	ENSP00000507641.1:p.Asn321Thr
ENST00000683411.1:c.554A>C	ENSP00000508397.1:p.Asn185Thr
ENST00000683437.1:c.554A>C	ENSP00000508408.1:p.Asn185Thr
ENST00000683613.1:n.1998A>C
ENST00000683834.1:n.1204A>C
ENST00000684663.1:c.959A>C	ENSP00000508009.1:p.Asn320Thr
ENST00000324559.9:c.1004A>C MANE Select	ENSP00000315371.9:p.Asn335Thr
ENST00000648804.1:n.1339A>C
ENST00000324559.8:c.1004A>C	ENSP00000315371.8:p.Asn335Thr
NM_001142649.1:c.1001A>C	NP_001136121.1:p.Asn334Thr
NM_213599.2:c.1004A>C , LRG_868t1:c.1004A>C	NP_998764.1:p.Asn335Thr
XM_005252820.2:c.962A>C	XP_005252877.2:p.Asn321Thr
XM_005252821.2:c.959A>C	XP_005252878.2:p.Asn320Thr
XM_005252822.3:c.926A>C	XP_005252879.1:p.Asn309Thr
XM_005252823.3:c.923A>C	XP_005252880.1:p.Asn308Thr
XM_011519949.1:c.911A>C	XP_011518251.1:p.Asn304Thr
XM_005252820.3:c.962A>C	XP_005252877.2:p.Asn321Thr
XM_005252821.3:c.959A>C	XP_005252878.2:p.Asn320Thr
XM_005252822.4:c.926A>C	XP_005252879.1:p.Asn309Thr
XM_011519949.2:c.911A>C	XP_011518251.1:p.Asn304Thr
NM_001142649.2:c.1001A>C	NP_001136121.1:p.Asn334Thr
NM_213599.3:c.1004A>C MANE Select	NP_998764.1:p.Asn335Thr