Canonical Allele Identifier: CA379923939

Gene: ANO5

Linked Data

• dbSNP Id: rs1854677733
• gnomAD v4: 11-22272931-G-A
• COSMIC: COSM5475494
• MyVariant Identifiers: chr11:g.22294477G>A (hg19) ; chr11:g.22272931G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.22272931G>A , CM000673.2:g.22272931G>A	GRCh38
NC_000011.9:g.22294477G>A , CM000673.1:g.22294477G>A	GRCh37
NC_000011.8:g.22251053G>A	NCBI36
NG_015844.1:g.84756G>A , LRG_868:g.84756G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000532043.2:n.194G>A
ENST00000682266.1:c.1727G>A	ENSP00000507766.1:p.Ser576Asn
ENST00000682341.1:c.2135G>A	ENSP00000508251.1:p.Ser712Asn
ENST00000683197.1:c.2135G>A	ENSP00000507641.1:p.Ser712Asn
ENST00000683411.1:c.1727G>A	ENSP00000508397.1:p.Ser576Asn
ENST00000683437.1:c.1727G>A	ENSP00000508408.1:p.Ser576Asn
ENST00000683613.1:n.3171G>A
ENST00000684663.1:c.2132G>A	ENSP00000508009.1:p.Ser711Asn
ENST00000324559.9:c.2177G>A MANE Select	ENSP00000315371.9:p.Ser726Asn
ENST00000648804.1:n.2512G>A
ENST00000324559.8:c.2177G>A	ENSP00000315371.8:p.Ser726Asn
ENST00000532043.1:n.194G>A
NM_001142649.1:c.2174G>A	NP_001136121.1:p.Ser725Asn
NM_213599.2:c.2177G>A , LRG_868t1:c.2177G>A	NP_998764.1:p.Ser726Asn
XM_005252820.2:c.2135G>A	XP_005252877.2:p.Ser712Asn
XM_005252821.2:c.2132G>A	XP_005252878.2:p.Ser711Asn
XM_005252822.3:c.2099G>A	XP_005252879.1:p.Ser700Asn
XM_005252823.3:c.2096G>A	XP_005252880.1:p.Ser699Asn
XM_011519949.1:c.2084G>A	XP_011518251.1:p.Ser695Asn
XM_005252820.3:c.2135G>A	XP_005252877.2:p.Ser712Asn
XM_005252821.3:c.2132G>A	XP_005252878.2:p.Ser711Asn
XM_005252822.4:c.2099G>A	XP_005252879.1:p.Ser700Asn
XM_011519949.2:c.2084G>A	XP_011518251.1:p.Ser695Asn
NM_001142649.2:c.2174G>A	NP_001136121.1:p.Ser725Asn
NM_213599.3:c.2177G>A MANE Select	NP_998764.1:p.Ser726Asn