Canonical Allele Identifier: CA5923086

Gene: ANO5

Linked Data

• ClinVar Variation Id: 1443031
• ClinVar RCV Id: RCV001953282
• dbSNP Id: rs373814281
• ExAC: 11:22271893 T / C
• gnomAD v2: 11-22271893-T-C
• gnomAD v3: 11-22250347-T-C
• gnomAD v4: 11-22250347-T-C
• MyVariant Identifiers: chr11:g.22271893T>C (hg19) ; chr11:g.22250347T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.22250347T>C , CM000673.2:g.22250347T>C	GRCh38
NC_000011.9:g.22271893T>C , CM000673.1:g.22271893T>C	GRCh37
NC_000011.8:g.22228469T>C	NCBI36
NG_015844.1:g.62172T>C , LRG_868:g.62172T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682089.1:n.309T>C
ENST00000682266.1:c.539T>C	ENSP00000507766.1:p.Leu180Ser
ENST00000682341.1:c.947T>C	ENSP00000508251.1:p.Leu316Ser
ENST00000682530.1:c.*921T>C	ENSP00000506805.1:n.*921T>C
ENST00000683197.1:c.947T>C	ENSP00000507641.1:p.Leu316Ser
ENST00000683411.1:c.539T>C	ENSP00000508397.1:p.Leu180Ser
ENST00000683437.1:c.539T>C	ENSP00000508408.1:p.Leu180Ser
ENST00000683613.1:n.1983T>C
ENST00000683834.1:n.1189T>C
ENST00000684663.1:c.944T>C	ENSP00000508009.1:p.Leu315Ser
ENST00000324559.9:c.989T>C MANE Select	ENSP00000315371.9:p.Leu330Ser
ENST00000648804.1:n.1324T>C
ENST00000324559.8:c.989T>C	ENSP00000315371.8:p.Leu330Ser
NM_001142649.1:c.986T>C	NP_001136121.1:p.Leu329Ser
NM_213599.2:c.989T>C , LRG_868t1:c.989T>C	NP_998764.1:p.Leu330Ser
XM_005252820.2:c.947T>C	XP_005252877.2:p.Leu316Ser
XM_005252821.2:c.944T>C	XP_005252878.2:p.Leu315Ser
XM_005252822.3:c.911T>C	XP_005252879.1:p.Leu304Ser
XM_005252823.3:c.908T>C	XP_005252880.1:p.Leu303Ser
XM_011519949.1:c.896T>C	XP_011518251.1:p.Leu299Ser
XM_005252820.3:c.947T>C	XP_005252877.2:p.Leu316Ser
XM_005252821.3:c.944T>C	XP_005252878.2:p.Leu315Ser
XM_005252822.4:c.911T>C	XP_005252879.1:p.Leu304Ser
XM_011519949.2:c.896T>C	XP_011518251.1:p.Leu299Ser
NM_001142649.2:c.986T>C	NP_001136121.1:p.Leu329Ser
NM_213599.3:c.989T>C MANE Select	NP_998764.1:p.Leu330Ser