Canonical Allele Identifier: CA5923597

Gene: ANO5

Linked Data

• ClinVar Variation Id: 285338
• ClinVar RCV Id: RCV000347528 ; RCV000645350 ; RCV000778320 ; RCV001729506 ; RCV002502129
• dbSNP Id: rs142073798
• ExAC: 11:22297723 T / A
• gnomAD v2: 11-22297723-T-A
• gnomAD v3: 11-22276177-T-A
• gnomAD v4: 11-22276177-T-A
• MyVariant Identifiers: chr11:g.22297723T>A (hg19) ; chr11:g.22276177T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.22276177T>A , CM000673.2:g.22276177T>A	GRCh38
NC_000011.9:g.22297723T>A , CM000673.1:g.22297723T>A	GRCh37
NC_000011.8:g.22254299T>A	NCBI36
NG_015844.1:g.88002T>A , LRG_868:g.88002T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000532043.2:n.515T>A
ENST00000682266.1:c.2048T>A	ENSP00000507766.1:p.Met683Lys
ENST00000682341.1:c.2456T>A	ENSP00000508251.1:p.Met819Lys
ENST00000683197.1:c.2372+1430T>A	ENSP00000507641.1:n.2372+1430T>A
ENST00000683411.1:c.2048T>A	ENSP00000508397.1:p.Met683Lys
ENST00000683437.1:c.2048T>A	ENSP00000508408.1:p.Met683Lys
ENST00000683613.1:n.3492T>A
ENST00000684663.1:c.2453T>A	ENSP00000508009.1:p.Met818Lys
ENST00000324559.9:c.2498T>A MANE Select	ENSP00000315371.9:p.Met833Lys
ENST00000648804.1:n.2833T>A
ENST00000324559.8:c.2498T>A	ENSP00000315371.8:p.Met833Lys
ENST00000532043.1:n.515T>A
NM_001142649.1:c.2495T>A	NP_001136121.1:p.Met832Lys
NM_213599.2:c.2498T>A , LRG_868t1:c.2498T>A	NP_998764.1:p.Met833Lys
XM_005252820.2:c.2456T>A	XP_005252877.2:p.Met819Lys
XM_005252821.2:c.2453T>A	XP_005252878.2:p.Met818Lys
XM_005252822.3:c.2420T>A	XP_005252879.1:p.Met807Lys
XM_005252823.3:c.2417T>A	XP_005252880.1:p.Met806Lys
XM_011519949.1:c.2405T>A	XP_011518251.1:p.Met802Lys
XM_005252820.3:c.2456T>A	XP_005252877.2:p.Met819Lys
XM_005252821.3:c.2453T>A	XP_005252878.2:p.Met818Lys
XM_005252822.4:c.2420T>A	XP_005252879.1:p.Met807Lys
XM_011519949.2:c.2405T>A	XP_011518251.1:p.Met802Lys
NM_001142649.2:c.2495T>A	NP_001136121.1:p.Met832Lys
NM_213599.3:c.2498T>A MANE Select	NP_998764.1:p.Met833Lys