Canonical Allele Identifier: CA379923993

Gene: ANO5

Linked Data

• ClinVar Variation Id: 1055959
• ClinVar RCV Id: RCV001364715
• dbSNP Id: rs2133788943
• gnomAD v4: 11-22272955-T-C
• MyVariant Identifiers: chr11:g.22294501T>C (hg19) ; chr11:g.22272955T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.22272955T>C , CM000673.2:g.22272955T>C	GRCh38
NC_000011.9:g.22294501T>C , CM000673.1:g.22294501T>C	GRCh37
NC_000011.8:g.22251077T>C	NCBI36
NG_015844.1:g.84780T>C , LRG_868:g.84780T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000532043.2:n.218T>C
ENST00000682266.1:c.1751T>C	ENSP00000507766.1:p.Leu584Pro
ENST00000682341.1:c.2159T>C	ENSP00000508251.1:p.Leu720Pro
ENST00000683197.1:c.2159T>C	ENSP00000507641.1:p.Leu720Pro
ENST00000683411.1:c.1751T>C	ENSP00000508397.1:p.Leu584Pro
ENST00000683437.1:c.1751T>C	ENSP00000508408.1:p.Leu584Pro
ENST00000683613.1:n.3195T>C
ENST00000684663.1:c.2156T>C	ENSP00000508009.1:p.Leu719Pro
ENST00000324559.9:c.2201T>C MANE Select	ENSP00000315371.9:p.Leu734Pro
ENST00000648804.1:n.2536T>C
ENST00000324559.8:c.2201T>C	ENSP00000315371.8:p.Leu734Pro
ENST00000532043.1:n.218T>C
NM_001142649.1:c.2198T>C	NP_001136121.1:p.Leu733Pro
NM_213599.2:c.2201T>C , LRG_868t1:c.2201T>C	NP_998764.1:p.Leu734Pro
XM_005252820.2:c.2159T>C	XP_005252877.2:p.Leu720Pro
XM_005252821.2:c.2156T>C	XP_005252878.2:p.Leu719Pro
XM_005252822.3:c.2123T>C	XP_005252879.1:p.Leu708Pro
XM_005252823.3:c.2120T>C	XP_005252880.1:p.Leu707Pro
XM_011519949.1:c.2108T>C	XP_011518251.1:p.Leu703Pro
XM_005252820.3:c.2159T>C	XP_005252877.2:p.Leu720Pro
XM_005252821.3:c.2156T>C	XP_005252878.2:p.Leu719Pro
XM_005252822.4:c.2123T>C	XP_005252879.1:p.Leu708Pro
XM_011519949.2:c.2108T>C	XP_011518251.1:p.Leu703Pro
NM_001142649.2:c.2198T>C	NP_001136121.1:p.Leu733Pro
NM_213599.3:c.2201T>C MANE Select	NP_998764.1:p.Leu734Pro