Canonical Allele Identifier: CA379920642

Gene: ANO5

Linked Data

• MyVariant Identifiers: chr11:g.22271787T>C (hg19) ; chr11:g.22250241T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.22250241T>C , CM000673.2:g.22250241T>C	GRCh38
NC_000011.9:g.22271787T>C , CM000673.1:g.22271787T>C	GRCh37
NC_000011.8:g.22228363T>C	NCBI36
NG_015844.1:g.62066T>C , LRG_868:g.62066T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682089.1:n.203T>C
ENST00000682266.1:c.433T>C	ENSP00000507766.1:p.Tyr145His
ENST00000682341.1:c.841T>C	ENSP00000508251.1:p.Tyr281His
ENST00000682530.1:c.*815T>C	ENSP00000506805.1:n.*815T>C
ENST00000683197.1:c.841T>C	ENSP00000507641.1:p.Tyr281His
ENST00000683411.1:c.433T>C	ENSP00000508397.1:p.Tyr145His
ENST00000683437.1:c.433T>C	ENSP00000508408.1:p.Tyr145His
ENST00000683613.1:n.1877T>C
ENST00000683834.1:n.1083T>C
ENST00000684663.1:c.838T>C	ENSP00000508009.1:p.Tyr280His
ENST00000324559.9:c.883T>C MANE Select	ENSP00000315371.9:p.Tyr295His
ENST00000648804.1:n.1218T>C
ENST00000324559.8:c.883T>C	ENSP00000315371.8:p.Tyr295His
NM_001142649.1:c.880T>C	NP_001136121.1:p.Tyr294His
NM_213599.2:c.883T>C , LRG_868t1:c.883T>C	NP_998764.1:p.Tyr295His
XM_005252820.2:c.841T>C	XP_005252877.2:p.Tyr281His
XM_005252821.2:c.838T>C	XP_005252878.2:p.Tyr280His
XM_005252822.3:c.805T>C	XP_005252879.1:p.Tyr269His
XM_005252823.3:c.802T>C	XP_005252880.1:p.Tyr268His
XM_011519949.1:c.790T>C	XP_011518251.1:p.Tyr264His
XM_005252820.3:c.841T>C	XP_005252877.2:p.Tyr281His
XM_005252821.3:c.838T>C	XP_005252878.2:p.Tyr280His
XM_005252822.4:c.805T>C	XP_005252879.1:p.Tyr269His
XM_011519949.2:c.790T>C	XP_011518251.1:p.Tyr264His
NM_001142649.2:c.880T>C	NP_001136121.1:p.Tyr294His
NM_213599.3:c.883T>C MANE Select	NP_998764.1:p.Tyr295His