Canonical Allele Identifier: CA379920889

Gene: ANO5

Linked Data

• dbSNP Id: rs377619934
• MyVariant Identifiers: chr11:g.22271900G>T (hg19) ; chr11:g.22250354G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.22250354G>T , CM000673.2:g.22250354G>T	GRCh38
NC_000011.9:g.22271900G>T , CM000673.1:g.22271900G>T	GRCh37
NC_000011.8:g.22228476G>T	NCBI36
NG_015844.1:g.62179G>T , LRG_868:g.62179G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000682089.1:n.316G>T
ENST00000682266.1:c.546G>T	ENSP00000507766.1:p.Met182Ile
ENST00000682341.1:c.954G>T	ENSP00000508251.1:p.Met318Ile
ENST00000682530.1:c.*928G>T	ENSP00000506805.1:n.*928G>T
ENST00000683197.1:c.954G>T	ENSP00000507641.1:p.Met318Ile
ENST00000683411.1:c.546G>T	ENSP00000508397.1:p.Met182Ile
ENST00000683437.1:c.546G>T	ENSP00000508408.1:p.Met182Ile
ENST00000683613.1:n.1990G>T
ENST00000683834.1:n.1196G>T
ENST00000684663.1:c.951G>T	ENSP00000508009.1:p.Met317Ile
ENST00000324559.9:c.996G>T MANE Select	ENSP00000315371.9:p.Met332Ile
ENST00000648804.1:n.1331G>T
ENST00000324559.8:c.996G>T	ENSP00000315371.8:p.Met332Ile
NM_001142649.1:c.993G>T	NP_001136121.1:p.Met331Ile
NM_213599.2:c.996G>T , LRG_868t1:c.996G>T	NP_998764.1:p.Met332Ile
XM_005252820.2:c.954G>T	XP_005252877.2:p.Met318Ile
XM_005252821.2:c.951G>T	XP_005252878.2:p.Met317Ile
XM_005252822.3:c.918G>T	XP_005252879.1:p.Met306Ile
XM_005252823.3:c.915G>T	XP_005252880.1:p.Met305Ile
XM_011519949.1:c.903G>T	XP_011518251.1:p.Met301Ile
XM_005252820.3:c.954G>T	XP_005252877.2:p.Met318Ile
XM_005252821.3:c.951G>T	XP_005252878.2:p.Met317Ile
XM_005252822.4:c.918G>T	XP_005252879.1:p.Met306Ile
XM_011519949.2:c.903G>T	XP_011518251.1:p.Met301Ile
NM_001142649.2:c.993G>T	NP_001136121.1:p.Met331Ile
NM_213599.3:c.996G>T MANE Select	NP_998764.1:p.Met332Ile