Canonical Allele Identifier: CA2574781572

Gene: ANO5

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.22259760T>G , CM000673.2:g.22259760T>G	GRCh38
NC_000011.9:g.22281306T>G , CM000673.1:g.22281306T>G	GRCh37
NC_000011.8:g.22237882T>G	NCBI36
NG_015844.1:g.71585T>G , LRG_868:g.71585T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682266.1:c.1180+19T>G	ENSP00000507766.1:n.1180+19T>G
ENST00000682341.1:c.1588+19T>G	ENSP00000508251.1:n.1588+19T>G
ENST00000683197.1:c.1588+19T>G	ENSP00000507641.1:n.1588+19T>G
ENST00000683411.1:c.1180+19T>G	ENSP00000508397.1:n.1180+19T>G
ENST00000683437.1:c.1180+19T>G	ENSP00000508408.1:n.1180+19T>G
ENST00000683613.1:n.2624+19T>G
ENST00000684663.1:c.1585+19T>G	ENSP00000508009.1:n.1585+19T>G
ENST00000324559.9:c.1630+19T>G MANE Select	ENSP00000315371.9:n.1630+19T>G
ENST00000648804.1:n.1965+19T>G
ENST00000324559.8:c.1630+19T>G	ENSP00000315371.8:n.1630+19T>G
NM_001142649.1:c.1627+19T>G	NP_001136121.1:n.1627+19T>G
NM_213599.2:c.1630+19T>G , LRG_868t1:c.1630+19T>G	NP_998764.1:n.1630+19T>G
XM_005252820.2:c.1588+19T>G	XP_005252877.2:n.1588+19T>G
XM_005252821.2:c.1585+19T>G	XP_005252878.2:n.1585+19T>G
XM_005252822.3:c.1552+19T>G	XP_005252879.1:n.1552+19T>G
XM_005252823.3:c.1549+19T>G	XP_005252880.1:n.1549+19T>G
XM_011519949.1:c.1537+19T>G	XP_011518251.1:n.1537+19T>G
XM_005252820.3:c.1588+19T>G	XP_005252877.2:n.1588+19T>G
XM_005252821.3:c.1585+19T>G	XP_005252878.2:n.1585+19T>G
XM_005252822.4:c.1552+19T>G	XP_005252879.1:n.1552+19T>G
XM_011519949.2:c.1537+19T>G	XP_011518251.1:n.1537+19T>G
NM_001142649.2:c.1627+19T>G	NP_001136121.1:n.1627+19T>G
NM_213599.3:c.1630+19T>G MANE Select	NP_998764.1:n.1630+19T>G