Canonical Allele Identifier: CA379925179

Gene: ANO5

Linked Data

• gnomAD v4: 11-22221116-G-A
• MyVariant Identifiers: chr11:g.22242662G>A (hg19) ; chr11:g.22221116G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.22221116G>A , CM000673.2:g.22221116G>A	GRCh38
NC_000011.9:g.22242662G>A , CM000673.1:g.22242662G>A	GRCh37
NC_000011.8:g.22199238G>A	NCBI36
NG_015844.1:g.32941G>A , LRG_868:g.32941G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000682266.1:c.-251G>A	ENSP00000507766.1:n.-251G>A
ENST00000682341.1:c.158G>A	ENSP00000508251.1:p.Ser53Asn
ENST00000682530.1:c.*132G>A	ENSP00000506805.1:n.*132G>A
ENST00000682684.1:n.579G>A
ENST00000683197.1:c.158G>A	ENSP00000507641.1:p.Ser53Asn
ENST00000683411.1:c.-251G>A	ENSP00000508397.1:n.-251G>A
ENST00000683437.1:c.-251G>A	ENSP00000508408.1:n.-251G>A
ENST00000683613.1:n.1194G>A
ENST00000683834.1:n.400G>A
ENST00000683897.1:n.444G>A
ENST00000684365.1:n.569G>A
ENST00000684663.1:c.155G>A	ENSP00000508009.1:p.Ser52Asn
ENST00000324559.9:c.200G>A MANE Select	ENSP00000315371.9:p.Ser67Asn
ENST00000648804.1:n.765G>A
ENST00000324559.8:c.200G>A	ENSP00000315371.8:p.Ser67Asn
NM_001142649.1:c.197G>A	NP_001136121.1:p.Ser66Asn
NM_213599.2:c.200G>A , LRG_868t1:c.200G>A	NP_998764.1:p.Ser67Asn
XM_005252820.2:c.158G>A	XP_005252877.2:p.Ser53Asn
XM_005252821.2:c.155G>A	XP_005252878.2:p.Ser52Asn
XM_005252822.3:c.122G>A	XP_005252879.1:p.Ser41Asn
XM_005252823.3:c.119G>A	XP_005252880.1:p.Ser40Asn
XM_011519949.1:c.107G>A	XP_011518251.1:p.Ser36Asn
XM_005252820.3:c.158G>A	XP_005252877.2:p.Ser53Asn
XM_005252821.3:c.155G>A	XP_005252878.2:p.Ser52Asn
XM_005252822.4:c.122G>A	XP_005252879.1:p.Ser41Asn
XM_011519949.2:c.107G>A	XP_011518251.1:p.Ser36Asn
NM_001142649.2:c.197G>A	NP_001136121.1:p.Ser66Asn
NM_213599.3:c.200G>A MANE Select	NP_998764.1:p.Ser67Asn