Canonical Allele Identifier: CA218735771

Gene: ANO5

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.22227834T>C , CM000673.2:g.22227834T>C	GRCh38
NC_000011.9:g.22249380T>C , CM000673.1:g.22249380T>C	GRCh37
NC_000011.8:g.22205956T>C	NCBI36
NG_015844.1:g.39659T>C , LRG_868:g.39659T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_213599.3:c.648+248T>C MANE Select	NP_998764.1:n.648+248T>C
ENST00000324559.9:c.648+248T>C MANE Select	ENSP00000315371.9:n.648+248T>C
NM_001142649.1:c.645+248T>C	NP_001136121.1:n.645+248T>C
NM_001142649.2:c.645+248T>C	NP_001136121.1:n.645+248T>C
NM_213599.2:c.648+248T>C , LRG_868t1:c.648+248T>C	NP_998764.1:n.648+248T>C
ENST00000324559.8:c.648+248T>C	ENSP00000315371.8:n.648+248T>C
ENST00000648804.1:n.1213+248T>C
ENST00000682266.1:c.198+248T>C	ENSP00000507766.1:n.198+248T>C
ENST00000682341.1:c.606+248T>C	ENSP00000508251.1:n.606+248T>C
ENST00000682530.1:c.*580+248T>C	ENSP00000506805.1:n.*580+248T>C
ENST00000682684.1:n.1027+248T>C
ENST00000683197.1:c.606+248T>C	ENSP00000507641.1:n.606+248T>C
ENST00000683411.1:c.198+248T>C	ENSP00000508397.1:n.198+248T>C
ENST00000683437.1:c.198+248T>C	ENSP00000508408.1:n.198+248T>C
ENST00000683613.1:n.1642+248T>C
ENST00000683834.1:n.848+248T>C
ENST00000684663.1:c.603+248T>C	ENSP00000508009.1:n.603+248T>C
XM_005252820.2:c.606+248T>C	XP_005252877.2:n.606+248T>C
XM_005252820.3:c.606+248T>C	XP_005252877.2:n.606+248T>C
XM_005252821.2:c.603+248T>C	XP_005252878.2:n.603+248T>C
XM_005252821.3:c.603+248T>C	XP_005252878.2:n.603+248T>C
XM_005252822.3:c.570+248T>C	XP_005252879.1:n.570+248T>C
XM_005252822.4:c.570+248T>C	XP_005252879.1:n.570+248T>C
XM_005252823.3:c.567+248T>C	XP_005252880.1:n.567+248T>C
XM_011519949.1:c.555+248T>C	XP_011518251.1:n.555+248T>C
XM_011519949.2:c.555+248T>C	XP_011518251.1:n.555+248T>C