Canonical Allele Identifier: CA379924832

Gene: ANO5

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.22218289T>C , CM000673.2:g.22218289T>C	GRCh38
NC_000011.9:g.22239835T>C , CM000673.1:g.22239835T>C	GRCh37
NC_000011.8:g.22196411T>C	NCBI36
NG_015844.1:g.30114T>C , LRG_868:g.30114T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_213599.3:c.180+2T>C MANE Select	NP_998764.1:n.180+2T>C
ENST00000324559.9:c.180+2T>C MANE Select	ENSP00000315371.9:n.180+2T>C
NM_001142649.1:c.177+2T>C	NP_001136121.1:n.177+2T>C
NM_001142649.2:c.177+2T>C	NP_001136121.1:n.177+2T>C
NM_213599.2:c.180+2T>C , LRG_868t1:c.180+2T>C	NP_998764.1:n.180+2T>C
ENST00000324559.8:c.180+2T>C	ENSP00000315371.8:n.180+2T>C
ENST00000648804.1:n.670-297T>C
ENST00000682084.1:n.3356T>C
ENST00000682266.1:c.-270-2808T>C	ENSP00000507766.1:n.-270-2808T>C
ENST00000682341.1:c.139-2808T>C	ENSP00000508251.1:n.139-2808T>C
ENST00000682530.1:c.136-454T>C	ENSP00000506805.1:n.136-454T>C
ENST00000682684.1:n.560-2808T>C
ENST00000683197.1:c.139-2808T>C	ENSP00000507641.1:n.139-2808T>C
ENST00000683411.1:c.-270-2808T>C	ENSP00000508397.1:n.-270-2808T>C
ENST00000683437.1:c.-270-2808T>C	ENSP00000508408.1:n.-270-2808T>C
ENST00000683834.1:n.381-2808T>C
ENST00000683897.1:n.425-2808T>C
ENST00000684365.1:n.550-2808T>C
ENST00000684663.1:c.136-2808T>C	ENSP00000508009.1:n.136-2808T>C
XM_005252820.2:c.139-2808T>C	XP_005252877.2:n.139-2808T>C
XM_005252820.3:c.139-2808T>C	XP_005252877.2:n.139-2808T>C
XM_005252821.2:c.136-2808T>C	XP_005252878.2:n.136-2808T>C
XM_005252821.3:c.136-2808T>C	XP_005252878.2:n.136-2808T>C
XM_005252822.3:c.102+2T>C	XP_005252879.1:n.102+2T>C
XM_005252822.4:c.102+2T>C	XP_005252879.1:n.102+2T>C
XM_005252823.3:c.99+2T>C	XP_005252880.1:n.99+2T>C
XM_011519949.1:c.88-2808T>C	XP_011518251.1:n.88-2808T>C
XM_011519949.2:c.88-2808T>C	XP_011518251.1:n.88-2808T>C