Canonical Allele Identifier: CA379920473

Gene: ANO5

Linked Data

• ClinVar Variation Id: 468826
• ClinVar RCV Id: RCV000560191 ; RCV001785657
• dbSNP Id: rs1380525804
• MyVariant Identifiers: chr11:g.22261165C>G (hg19) ; chr11:g.22239619C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.22239619C>G , CM000673.2:g.22239619C>G	GRCh38
NC_000011.9:g.22261165C>G , CM000673.1:g.22261165C>G	GRCh37
NC_000011.8:g.22217741C>G	NCBI36
NG_015844.1:g.51444C>G , LRG_868:g.51444C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682266.1:c.363C>G	ENSP00000507766.1:p.Tyr121Ter
ENST00000682341.1:c.771C>G	ENSP00000508251.1:p.Tyr257Ter
ENST00000682530.1:c.*745C>G	ENSP00000506805.1:n.*745C>G
ENST00000682684.1:n.1192C>G
ENST00000683197.1:c.771C>G	ENSP00000507641.1:p.Tyr257Ter
ENST00000683411.1:c.363C>G	ENSP00000508397.1:p.Tyr121Ter
ENST00000683437.1:c.363C>G	ENSP00000508408.1:p.Tyr121Ter
ENST00000683613.1:n.1807C>G
ENST00000683834.1:n.1013C>G
ENST00000684663.1:c.768C>G	ENSP00000508009.1:p.Tyr256Ter
ENST00000324559.9:c.813C>G MANE Select	ENSP00000315371.9:p.Tyr271Ter
ENST00000648804.1:n.1214-10618C>G
ENST00000324559.8:c.813C>G	ENSP00000315371.8:p.Tyr271Ter
NM_001142649.1:c.810C>G	NP_001136121.1:p.Tyr270Ter
NM_213599.2:c.813C>G , LRG_868t1:c.813C>G	NP_998764.1:p.Tyr271Ter
XM_005252820.2:c.771C>G	XP_005252877.2:p.Tyr257Ter
XM_005252821.2:c.768C>G	XP_005252878.2:p.Tyr256Ter
XM_005252822.3:c.735C>G	XP_005252879.1:p.Tyr245Ter
XM_005252823.3:c.732C>G	XP_005252880.1:p.Tyr244Ter
XM_011519949.1:c.720C>G	XP_011518251.1:p.Tyr240Ter
XM_005252820.3:c.771C>G	XP_005252877.2:p.Tyr257Ter
XM_005252821.3:c.768C>G	XP_005252878.2:p.Tyr256Ter
XM_005252822.4:c.735C>G	XP_005252879.1:p.Tyr245Ter
XM_011519949.2:c.720C>G	XP_011518251.1:p.Tyr240Ter
NM_001142649.2:c.810C>G	NP_001136121.1:p.Tyr270Ter
NM_213599.3:c.813C>G MANE Select	NP_998764.1:p.Tyr271Ter