Canonical Allele Identifier: CA379923806

Gene: ANO5

Linked Data

• MyVariant Identifiers: chr11:g.22294414T>G (hg19) ; chr11:g.22272868T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.22272868T>G , CM000673.2:g.22272868T>G	GRCh38
NC_000011.9:g.22294414T>G , CM000673.1:g.22294414T>G	GRCh37
NC_000011.8:g.22250990T>G	NCBI36
NG_015844.1:g.84693T>G , LRG_868:g.84693T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000532043.2:n.131T>G
ENST00000682266.1:c.1664T>G	ENSP00000507766.1:p.Ile555Ser
ENST00000682341.1:c.2072T>G	ENSP00000508251.1:p.Ile691Ser
ENST00000683197.1:c.2072T>G	ENSP00000507641.1:p.Ile691Ser
ENST00000683411.1:c.1664T>G	ENSP00000508397.1:p.Ile555Ser
ENST00000683437.1:c.1664T>G	ENSP00000508408.1:p.Ile555Ser
ENST00000683613.1:n.3108T>G
ENST00000684663.1:c.2069T>G	ENSP00000508009.1:p.Ile690Ser
ENST00000324559.9:c.2114T>G MANE Select	ENSP00000315371.9:p.Ile705Ser
ENST00000648804.1:n.2449T>G
ENST00000324559.8:c.2114T>G	ENSP00000315371.8:p.Ile705Ser
ENST00000532043.1:n.131T>G
NM_001142649.1:c.2111T>G	NP_001136121.1:p.Ile704Ser
NM_213599.2:c.2114T>G , LRG_868t1:c.2114T>G	NP_998764.1:p.Ile705Ser
XM_005252820.2:c.2072T>G	XP_005252877.2:p.Ile691Ser
XM_005252821.2:c.2069T>G	XP_005252878.2:p.Ile690Ser
XM_005252822.3:c.2036T>G	XP_005252879.1:p.Ile679Ser
XM_005252823.3:c.2033T>G	XP_005252880.1:p.Ile678Ser
XM_011519949.1:c.2021T>G	XP_011518251.1:p.Ile674Ser
XM_005252820.3:c.2072T>G	XP_005252877.2:p.Ile691Ser
XM_005252821.3:c.2069T>G	XP_005252878.2:p.Ile690Ser
XM_005252822.4:c.2036T>G	XP_005252879.1:p.Ile679Ser
XM_011519949.2:c.2021T>G	XP_011518251.1:p.Ile674Ser
NM_001142649.2:c.2111T>G	NP_001136121.1:p.Ile704Ser
NM_213599.3:c.2114T>G MANE Select	NP_998764.1:p.Ile705Ser