Canonical Allele Identifier: CA379920304

Gene: ANO5

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.22236252C>G , CM000673.2:g.22236252C>G	GRCh38
NC_000011.9:g.22257798C>G , CM000673.1:g.22257798C>G	GRCh37
NC_000011.8:g.22214374C>G	NCBI36
NG_015844.1:g.48077C>G , LRG_868:g.48077C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_213599.3:c.738C>G MANE Select	NP_998764.1:p.Tyr246Ter
ENST00000324559.9:c.738C>G MANE Select	ENSP00000315371.9:p.Tyr246Ter
NM_001142649.1:c.735C>G	NP_001136121.1:p.Tyr245Ter
NM_001142649.2:c.735C>G	NP_001136121.1:p.Tyr245Ter
NM_213599.2:c.738C>G , LRG_868t1:c.738C>G	NP_998764.1:p.Tyr246Ter
ENST00000324559.8:c.738C>G	ENSP00000315371.8:p.Tyr246Ter
ENST00000648804.1:n.1213+8666C>G
ENST00000682266.1:c.288C>G	ENSP00000507766.1:p.Tyr96Ter
ENST00000682341.1:c.696C>G	ENSP00000508251.1:p.Tyr232Ter
ENST00000682530.1:c.*670C>G	ENSP00000506805.1:n.*670C>G
ENST00000682684.1:n.1117C>G
ENST00000683197.1:c.696C>G	ENSP00000507641.1:p.Tyr232Ter
ENST00000683411.1:c.288C>G	ENSP00000508397.1:p.Tyr96Ter
ENST00000683437.1:c.288C>G	ENSP00000508408.1:p.Tyr96Ter
ENST00000683613.1:n.1732C>G
ENST00000683834.1:n.938C>G
ENST00000684663.1:c.693C>G	ENSP00000508009.1:p.Tyr231Ter
XM_005252820.2:c.696C>G	XP_005252877.2:p.Tyr232Ter
XM_005252820.3:c.696C>G	XP_005252877.2:p.Tyr232Ter
XM_005252821.2:c.693C>G	XP_005252878.2:p.Tyr231Ter
XM_005252821.3:c.693C>G	XP_005252878.2:p.Tyr231Ter
XM_005252822.3:c.660C>G	XP_005252879.1:p.Tyr220Ter
XM_005252822.4:c.660C>G	XP_005252879.1:p.Tyr220Ter
XM_005252823.3:c.657C>G	XP_005252880.1:p.Tyr219Ter
XM_011519949.1:c.645C>G	XP_011518251.1:p.Tyr215Ter
XM_011519949.2:c.645C>G	XP_011518251.1:p.Tyr215Ter