Canonical Allele Identifier: CA379922260

Gene: ANO5

Linked Data

• MyVariant Identifiers: chr11:g.22281200T>C (hg19) ; chr11:g.22259654T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.22259654T>C , CM000673.2:g.22259654T>C	GRCh38
NC_000011.9:g.22281200T>C , CM000673.1:g.22281200T>C	GRCh37
NC_000011.8:g.22237776T>C	NCBI36
NG_015844.1:g.71479T>C , LRG_868:g.71479T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000682266.1:c.1093T>C	ENSP00000507766.1:p.Ser365Pro
ENST00000682341.1:c.1501T>C	ENSP00000508251.1:p.Ser501Pro
ENST00000683197.1:c.1501T>C	ENSP00000507641.1:p.Ser501Pro
ENST00000683411.1:c.1093T>C	ENSP00000508397.1:p.Ser365Pro
ENST00000683437.1:c.1093T>C	ENSP00000508408.1:p.Ser365Pro
ENST00000683613.1:n.2537T>C
ENST00000684663.1:c.1498T>C	ENSP00000508009.1:p.Ser500Pro
ENST00000324559.9:c.1543T>C MANE Select	ENSP00000315371.9:p.Ser515Pro
ENST00000648804.1:n.1878T>C
ENST00000324559.8:c.1543T>C	ENSP00000315371.8:p.Ser515Pro
NM_001142649.1:c.1540T>C	NP_001136121.1:p.Ser514Pro
NM_213599.2:c.1543T>C , LRG_868t1:c.1543T>C	NP_998764.1:p.Ser515Pro
XM_005252820.2:c.1501T>C	XP_005252877.2:p.Ser501Pro
XM_005252821.2:c.1498T>C	XP_005252878.2:p.Ser500Pro
XM_005252822.3:c.1465T>C	XP_005252879.1:p.Ser489Pro
XM_005252823.3:c.1462T>C	XP_005252880.1:p.Ser488Pro
XM_011519949.1:c.1450T>C	XP_011518251.1:p.Ser484Pro
XM_005252820.3:c.1501T>C	XP_005252877.2:p.Ser501Pro
XM_005252821.3:c.1498T>C	XP_005252878.2:p.Ser500Pro
XM_005252822.4:c.1465T>C	XP_005252879.1:p.Ser489Pro
XM_011519949.2:c.1450T>C	XP_011518251.1:p.Ser484Pro
NM_001142649.2:c.1540T>C	NP_001136121.1:p.Ser514Pro
NM_213599.3:c.1543T>C MANE Select	NP_998764.1:p.Ser515Pro