Canonical Allele Identifier: CA379923872

Gene: ANO5

Linked Data

• dbSNP Id: rs1189800877
• gnomAD v2: 11-22294447-A-C
• MyVariant Identifiers: chr11:g.22294447A>C (hg19) ; chr11:g.22272901A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.22272901A>C , CM000673.2:g.22272901A>C	GRCh38
NC_000011.9:g.22294447A>C , CM000673.1:g.22294447A>C	GRCh37
NC_000011.8:g.22251023A>C	NCBI36
NG_015844.1:g.84726A>C , LRG_868:g.84726A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000532043.2:n.164A>C
ENST00000682266.1:c.1697A>C	ENSP00000507766.1:p.Tyr566Ser
ENST00000682341.1:c.2105A>C	ENSP00000508251.1:p.Tyr702Ser
ENST00000683197.1:c.2105A>C	ENSP00000507641.1:p.Tyr702Ser
ENST00000683411.1:c.1697A>C	ENSP00000508397.1:p.Tyr566Ser
ENST00000683437.1:c.1697A>C	ENSP00000508408.1:p.Tyr566Ser
ENST00000683613.1:n.3141A>C
ENST00000684663.1:c.2102A>C	ENSP00000508009.1:p.Tyr701Ser
ENST00000324559.9:c.2147A>C MANE Select	ENSP00000315371.9:p.Tyr716Ser
ENST00000648804.1:n.2482A>C
ENST00000324559.8:c.2147A>C	ENSP00000315371.8:p.Tyr716Ser
ENST00000532043.1:n.164A>C
NM_001142649.1:c.2144A>C	NP_001136121.1:p.Tyr715Ser
NM_213599.2:c.2147A>C , LRG_868t1:c.2147A>C	NP_998764.1:p.Tyr716Ser
XM_005252820.2:c.2105A>C	XP_005252877.2:p.Tyr702Ser
XM_005252821.2:c.2102A>C	XP_005252878.2:p.Tyr701Ser
XM_005252822.3:c.2069A>C	XP_005252879.1:p.Tyr690Ser
XM_005252823.3:c.2066A>C	XP_005252880.1:p.Tyr689Ser
XM_011519949.1:c.2054A>C	XP_011518251.1:p.Tyr685Ser
XM_005252820.3:c.2105A>C	XP_005252877.2:p.Tyr702Ser
XM_005252821.3:c.2102A>C	XP_005252878.2:p.Tyr701Ser
XM_005252822.4:c.2069A>C	XP_005252879.1:p.Tyr690Ser
XM_011519949.2:c.2054A>C	XP_011518251.1:p.Tyr685Ser
NM_001142649.2:c.2144A>C	NP_001136121.1:p.Tyr715Ser
NM_213599.3:c.2147A>C MANE Select	NP_998764.1:p.Tyr716Ser