Canonical Allele Identifier: CA5922741

Gene: ANO5

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.22193534T>C , CM000673.2:g.22193534T>C	GRCh38
NC_000011.9:g.22215080T>C , CM000673.1:g.22215080T>C	GRCh37
NC_000011.8:g.22171656T>C	NCBI36
NG_015844.1:g.5359T>C , LRG_868:g.5359T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_213599.3:c.40+2T>C MANE Select	NP_998764.1:n.40+2T>C
ENST00000324559.9:c.40+2T>C MANE Select	ENSP00000315371.9:n.40+2T>C
NM_001142649.1:c.40+2T>C	NP_001136121.1:n.40+2T>C
NM_001142649.2:c.40+2T>C	NP_001136121.1:n.40+2T>C
NM_213599.2:c.40+2T>C , LRG_868t1:c.40+2T>C	NP_998764.1:n.40+2T>C
ENST00000324559.8:c.40+2T>C	ENSP00000315371.8:n.40+2T>C
ENST00000648804.1:n.545-10270T>C
ENST00000682266.1:c.-322+2T>C	ENSP00000507766.1:n.-322+2T>C
ENST00000682341.1:c.40+2T>C	ENSP00000508251.1:n.40+2T>C
ENST00000682530.1:c.40+2T>C	ENSP00000506805.1:n.40+2T>C
ENST00000682684.1:n.464+2T>C
ENST00000683197.1:c.40+2T>C	ENSP00000507641.1:n.40+2T>C
ENST00000683411.1:c.-383+2T>C	ENSP00000508397.1:n.-383+2T>C
ENST00000683437.1:c.-271+2T>C	ENSP00000508408.1:n.-271+2T>C
ENST00000683834.1:n.285+2T>C
ENST00000683897.1:n.326+2T>C
ENST00000684365.1:n.454+2T>C
ENST00000684663.1:c.40+2T>C	ENSP00000508009.1:n.40+2T>C
XM_005252820.2:c.40+2T>C	XP_005252877.2:n.40+2T>C
XM_005252820.3:c.40+2T>C	XP_005252877.2:n.40+2T>C
XM_005252821.2:c.40+2T>C	XP_005252878.2:n.40+2T>C
XM_005252821.3:c.40+2T>C	XP_005252878.2:n.40+2T>C
XM_005252822.3:c.-39+808T>C	XP_005252879.1:n.-39+808T>C
XM_005252822.4:c.-39+808T>C	XP_005252879.1:n.-39+808T>C
XM_005252823.3:c.-39+808T>C	XP_005252880.1:n.-39+808T>C
XM_011519949.1:c.40+2T>C	XP_011518251.1:n.40+2T>C
XM_011519949.2:c.40+2T>C	XP_011518251.1:n.40+2T>C