Canonical Allele Identifier: CA379923964

Gene: ANO5

Linked Data

• MyVariant Identifiers: chr11:g.22294489G>T (hg19) ; chr11:g.22272943G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.22272943G>T , CM000673.2:g.22272943G>T	GRCh38
NC_000011.9:g.22294489G>T , CM000673.1:g.22294489G>T	GRCh37
NC_000011.8:g.22251065G>T	NCBI36
NG_015844.1:g.84768G>T , LRG_868:g.84768G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000532043.2:n.206G>T
ENST00000682266.1:c.1739G>T	ENSP00000507766.1:p.Trp580Leu
ENST00000682341.1:c.2147G>T	ENSP00000508251.1:p.Trp716Leu
ENST00000683197.1:c.2147G>T	ENSP00000507641.1:p.Trp716Leu
ENST00000683411.1:c.1739G>T	ENSP00000508397.1:p.Trp580Leu
ENST00000683437.1:c.1739G>T	ENSP00000508408.1:p.Trp580Leu
ENST00000683613.1:n.3183G>T
ENST00000684663.1:c.2144G>T	ENSP00000508009.1:p.Trp715Leu
ENST00000324559.9:c.2189G>T MANE Select	ENSP00000315371.9:p.Trp730Leu
ENST00000648804.1:n.2524G>T
ENST00000324559.8:c.2189G>T	ENSP00000315371.8:p.Trp730Leu
ENST00000532043.1:n.206G>T
NM_001142649.1:c.2186G>T	NP_001136121.1:p.Trp729Leu
NM_213599.2:c.2189G>T , LRG_868t1:c.2189G>T	NP_998764.1:p.Trp730Leu
XM_005252820.2:c.2147G>T	XP_005252877.2:p.Trp716Leu
XM_005252821.2:c.2144G>T	XP_005252878.2:p.Trp715Leu
XM_005252822.3:c.2111G>T	XP_005252879.1:p.Trp704Leu
XM_005252823.3:c.2108G>T	XP_005252880.1:p.Trp703Leu
XM_011519949.1:c.2096G>T	XP_011518251.1:p.Trp699Leu
XM_005252820.3:c.2147G>T	XP_005252877.2:p.Trp716Leu
XM_005252821.3:c.2144G>T	XP_005252878.2:p.Trp715Leu
XM_005252822.4:c.2111G>T	XP_005252879.1:p.Trp704Leu
XM_011519949.2:c.2096G>T	XP_011518251.1:p.Trp699Leu
NM_001142649.2:c.2186G>T	NP_001136121.1:p.Trp729Leu
NM_213599.3:c.2189G>T MANE Select	NP_998764.1:p.Trp730Leu