Canonical Allele Identifier: CA379921374

Gene: ANO5

Linked Data

• MyVariant Identifiers: chr11:g.22276929T>G (hg19) ; chr11:g.22255383T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.22255383T>G , CM000673.2:g.22255383T>G	GRCh38
NC_000011.9:g.22276929T>G , CM000673.1:g.22276929T>G	GRCh37
NC_000011.8:g.22233505T>G	NCBI36
NG_015844.1:g.67208T>G , LRG_868:g.67208T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682089.1:n.513T>G
ENST00000682266.1:c.743T>G	ENSP00000507766.1:p.Leu248Trp
ENST00000682341.1:c.1151T>G	ENSP00000508251.1:p.Leu384Trp
ENST00000682530.1:c.*1125T>G	ENSP00000506805.1:n.*1125T>G
ENST00000683197.1:c.1151T>G	ENSP00000507641.1:p.Leu384Trp
ENST00000683411.1:c.743T>G	ENSP00000508397.1:p.Leu248Trp
ENST00000683437.1:c.743T>G	ENSP00000508408.1:p.Leu248Trp
ENST00000683613.1:n.2187T>G
ENST00000683834.1:n.1393T>G
ENST00000684663.1:c.1148T>G	ENSP00000508009.1:p.Leu383Trp
ENST00000324559.9:c.1193T>G MANE Select	ENSP00000315371.9:p.Leu398Trp
ENST00000648804.1:n.1528T>G
ENST00000324559.8:c.1193T>G	ENSP00000315371.8:p.Leu398Trp
NM_001142649.1:c.1190T>G	NP_001136121.1:p.Leu397Trp
NM_213599.2:c.1193T>G , LRG_868t1:c.1193T>G	NP_998764.1:p.Leu398Trp
XM_005252820.2:c.1151T>G	XP_005252877.2:p.Leu384Trp
XM_005252821.2:c.1148T>G	XP_005252878.2:p.Leu383Trp
XM_005252822.3:c.1115T>G	XP_005252879.1:p.Leu372Trp
XM_005252823.3:c.1112T>G	XP_005252880.1:p.Leu371Trp
XM_011519949.1:c.1100T>G	XP_011518251.1:p.Leu367Trp
XM_005252820.3:c.1151T>G	XP_005252877.2:p.Leu384Trp
XM_005252821.3:c.1148T>G	XP_005252878.2:p.Leu383Trp
XM_005252822.4:c.1115T>G	XP_005252879.1:p.Leu372Trp
XM_011519949.2:c.1100T>G	XP_011518251.1:p.Leu367Trp
NM_001142649.2:c.1190T>G	NP_001136121.1:p.Leu397Trp
NM_213599.3:c.1193T>G MANE Select	NP_998764.1:p.Leu398Trp