Canonical Allele Identifier: CA473407388

Gene: ANO5

Linked Data

• MyVariant Identifiers: chr11:g.22291865T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.22270319T>C , CM000673.2:g.22270319T>C	GRCh38
NC_000011.9:g.22291865T>C , CM000673.1:g.22291865T>C	GRCh37
NC_000011.8:g.22248441T>C	NCBI36
NG_015844.1:g.82144T>C , LRG_868:g.82144T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682266.1:c.1456T>C	ENSP00000507766.1:p.Leu486=
ENST00000682341.1:c.1864T>C	ENSP00000508251.1:p.Leu622=
ENST00000683197.1:c.1864T>C	ENSP00000507641.1:p.Leu622=
ENST00000683411.1:c.1456T>C	ENSP00000508397.1:p.Leu486=
ENST00000683437.1:c.1456T>C	ENSP00000508408.1:p.Leu486=
ENST00000683613.1:n.2900T>C
ENST00000684663.1:c.1861T>C	ENSP00000508009.1:p.Leu621=
ENST00000324559.9:c.1906T>C MANE Select	ENSP00000315371.9:p.Leu636=
ENST00000648804.1:n.2241T>C
ENST00000324559.8:c.1906T>C	ENSP00000315371.8:p.Leu636=
NM_001142649.1:c.1903T>C	NP_001136121.1:p.Leu635=
NM_213599.2:c.1906T>C , LRG_868t1:c.1906T>C	NP_998764.1:p.Leu636=
XM_005252820.2:c.1864T>C	XP_005252877.2:p.Leu622=
XM_005252821.2:c.1861T>C	XP_005252878.2:p.Leu621=
XM_005252822.3:c.1828T>C	XP_005252879.1:p.Leu610=
XM_005252823.3:c.1825T>C	XP_005252880.1:p.Leu609=
XM_011519949.1:c.1813T>C	XP_011518251.1:p.Leu605=
XM_005252820.3:c.1864T>C	XP_005252877.2:p.Leu622=
XM_005252821.3:c.1861T>C	XP_005252878.2:p.Leu621=
XM_005252822.4:c.1828T>C	XP_005252879.1:p.Leu610=
XM_011519949.2:c.1813T>C	XP_011518251.1:p.Leu605=
NM_001142649.2:c.1903T>C	NP_001136121.1:p.Leu635=
NM_213599.3:c.1906T>C MANE Select	NP_998764.1:p.Leu636=