Canonical Allele Identifier: CA379923929

Gene: ANO5

Linked Data

• ClinVar Variation Id: 2950130
• ClinVar RCV Id: RCV003807488
• MyVariant Identifiers: chr11:g.22294473C>A (hg19) ; chr11:g.22272927C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.22272927C>A , CM000673.2:g.22272927C>A	GRCh38
NC_000011.9:g.22294473C>A , CM000673.1:g.22294473C>A	GRCh37
NC_000011.8:g.22251049C>A	NCBI36
NG_015844.1:g.84752C>A , LRG_868:g.84752C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000532043.2:n.190C>A
ENST00000682266.1:c.1723C>A	ENSP00000507766.1:p.His575Asn
ENST00000682341.1:c.2131C>A	ENSP00000508251.1:p.His711Asn
ENST00000683197.1:c.2131C>A	ENSP00000507641.1:p.His711Asn
ENST00000683411.1:c.1723C>A	ENSP00000508397.1:p.His575Asn
ENST00000683437.1:c.1723C>A	ENSP00000508408.1:p.His575Asn
ENST00000683613.1:n.3167C>A
ENST00000684663.1:c.2128C>A	ENSP00000508009.1:p.His710Asn
ENST00000324559.9:c.2173C>A MANE Select	ENSP00000315371.9:p.His725Asn
ENST00000648804.1:n.2508C>A
ENST00000324559.8:c.2173C>A	ENSP00000315371.8:p.His725Asn
ENST00000532043.1:n.190C>A
NM_001142649.1:c.2170C>A	NP_001136121.1:p.His724Asn
NM_213599.2:c.2173C>A , LRG_868t1:c.2173C>A	NP_998764.1:p.His725Asn
XM_005252820.2:c.2131C>A	XP_005252877.2:p.His711Asn
XM_005252821.2:c.2128C>A	XP_005252878.2:p.His710Asn
XM_005252822.3:c.2095C>A	XP_005252879.1:p.His699Asn
XM_005252823.3:c.2092C>A	XP_005252880.1:p.His698Asn
XM_011519949.1:c.2080C>A	XP_011518251.1:p.His694Asn
XM_005252820.3:c.2131C>A	XP_005252877.2:p.His711Asn
XM_005252821.3:c.2128C>A	XP_005252878.2:p.His710Asn
XM_005252822.4:c.2095C>A	XP_005252879.1:p.His699Asn
XM_011519949.2:c.2080C>A	XP_011518251.1:p.His694Asn
NM_001142649.2:c.2170C>A	NP_001136121.1:p.His724Asn
NM_213599.3:c.2173C>A MANE Select	NP_998764.1:p.His725Asn