Canonical Allele Identifier: CA379922376

Gene: ANO5

Linked Data

• ClinVar Variation Id: 623767
• ClinVar RCV Id: RCV000761768
• dbSNP Id: rs1564942037
• MyVariant Identifiers: chr11:g.22281254T>C (hg19) ; chr11:g.22259708T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.22259708T>C , CM000673.2:g.22259708T>C	GRCh38
NC_000011.9:g.22281254T>C , CM000673.1:g.22281254T>C	GRCh37
NC_000011.8:g.22237830T>C	NCBI36
NG_015844.1:g.71533T>C , LRG_868:g.71533T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682266.1:c.1147T>C	ENSP00000507766.1:p.Tyr383His
ENST00000682341.1:c.1555T>C	ENSP00000508251.1:p.Tyr519His
ENST00000683197.1:c.1555T>C	ENSP00000507641.1:p.Tyr519His
ENST00000683411.1:c.1147T>C	ENSP00000508397.1:p.Tyr383His
ENST00000683437.1:c.1147T>C	ENSP00000508408.1:p.Tyr383His
ENST00000683613.1:n.2591T>C
ENST00000684663.1:c.1552T>C	ENSP00000508009.1:p.Tyr518His
ENST00000324559.9:c.1597T>C MANE Select	ENSP00000315371.9:p.Tyr533His
ENST00000648804.1:n.1932T>C
ENST00000324559.8:c.1597T>C	ENSP00000315371.8:p.Tyr533His
NM_001142649.1:c.1594T>C	NP_001136121.1:p.Tyr532His
NM_213599.2:c.1597T>C , LRG_868t1:c.1597T>C	NP_998764.1:p.Tyr533His
XM_005252820.2:c.1555T>C	XP_005252877.2:p.Tyr519His
XM_005252821.2:c.1552T>C	XP_005252878.2:p.Tyr518His
XM_005252822.3:c.1519T>C	XP_005252879.1:p.Tyr507His
XM_005252823.3:c.1516T>C	XP_005252880.1:p.Tyr506His
XM_011519949.1:c.1504T>C	XP_011518251.1:p.Tyr502His
XM_005252820.3:c.1555T>C	XP_005252877.2:p.Tyr519His
XM_005252821.3:c.1552T>C	XP_005252878.2:p.Tyr518His
XM_005252822.4:c.1519T>C	XP_005252879.1:p.Tyr507His
XM_011519949.2:c.1504T>C	XP_011518251.1:p.Tyr502His
NM_001142649.2:c.1594T>C	NP_001136121.1:p.Tyr532His
NM_213599.3:c.1597T>C MANE Select	NP_998764.1:p.Tyr533His