Canonical Allele Identifier: CA379921366

Gene: ANO5

Linked Data

• MyVariant Identifiers: chr11:g.22276926T>C (hg19) ; chr11:g.22255380T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.22255380T>C , CM000673.2:g.22255380T>C	GRCh38
NC_000011.9:g.22276926T>C , CM000673.1:g.22276926T>C	GRCh37
NC_000011.8:g.22233502T>C	NCBI36
NG_015844.1:g.67205T>C , LRG_868:g.67205T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682089.1:n.510T>C
ENST00000682266.1:c.740T>C	ENSP00000507766.1:p.Phe247Ser
ENST00000682341.1:c.1148T>C	ENSP00000508251.1:p.Phe383Ser
ENST00000682530.1:c.*1122T>C	ENSP00000506805.1:n.*1122T>C
ENST00000683197.1:c.1148T>C	ENSP00000507641.1:p.Phe383Ser
ENST00000683411.1:c.740T>C	ENSP00000508397.1:p.Phe247Ser
ENST00000683437.1:c.740T>C	ENSP00000508408.1:p.Phe247Ser
ENST00000683613.1:n.2184T>C
ENST00000683834.1:n.1390T>C
ENST00000684663.1:c.1145T>C	ENSP00000508009.1:p.Phe382Ser
ENST00000324559.9:c.1190T>C MANE Select	ENSP00000315371.9:p.Phe397Ser
ENST00000648804.1:n.1525T>C
ENST00000324559.8:c.1190T>C	ENSP00000315371.8:p.Phe397Ser
NM_001142649.1:c.1187T>C	NP_001136121.1:p.Phe396Ser
NM_213599.2:c.1190T>C , LRG_868t1:c.1190T>C	NP_998764.1:p.Phe397Ser
XM_005252820.2:c.1148T>C	XP_005252877.2:p.Phe383Ser
XM_005252821.2:c.1145T>C	XP_005252878.2:p.Phe382Ser
XM_005252822.3:c.1112T>C	XP_005252879.1:p.Phe371Ser
XM_005252823.3:c.1109T>C	XP_005252880.1:p.Phe370Ser
XM_011519949.1:c.1097T>C	XP_011518251.1:p.Phe366Ser
XM_005252820.3:c.1148T>C	XP_005252877.2:p.Phe383Ser
XM_005252821.3:c.1145T>C	XP_005252878.2:p.Phe382Ser
XM_005252822.4:c.1112T>C	XP_005252879.1:p.Phe371Ser
XM_011519949.2:c.1097T>C	XP_011518251.1:p.Phe366Ser
NM_001142649.2:c.1187T>C	NP_001136121.1:p.Phe396Ser
NM_213599.3:c.1190T>C MANE Select	NP_998764.1:p.Phe397Ser