Canonical Allele Identifier: CA379923706

Gene: ANO5

Linked Data

• dbSNP Id: rs1358691859
• gnomAD v2: 11-22294377-G-C
• MyVariant Identifiers: chr11:g.22294377G>C (hg19) ; chr11:g.22272831G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.22272831G>C , CM000673.2:g.22272831G>C	GRCh38
NC_000011.9:g.22294377G>C , CM000673.1:g.22294377G>C	GRCh37
NC_000011.8:g.22250953G>C	NCBI36
NG_015844.1:g.84656G>C , LRG_868:g.84656G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000532043.2:n.94G>C
ENST00000682266.1:c.1627G>C	ENSP00000507766.1:p.Ala543Pro
ENST00000682341.1:c.2035G>C	ENSP00000508251.1:p.Ala679Pro
ENST00000683197.1:c.2035G>C	ENSP00000507641.1:p.Ala679Pro
ENST00000683411.1:c.1627G>C	ENSP00000508397.1:p.Ala543Pro
ENST00000683437.1:c.1627G>C	ENSP00000508408.1:p.Ala543Pro
ENST00000683613.1:n.3071G>C
ENST00000684663.1:c.2032G>C	ENSP00000508009.1:p.Ala678Pro
ENST00000324559.9:c.2077G>C MANE Select	ENSP00000315371.9:p.Ala693Pro
ENST00000648804.1:n.2412G>C
ENST00000324559.8:c.2077G>C	ENSP00000315371.8:p.Ala693Pro
ENST00000532043.1:n.94G>C
NM_001142649.1:c.2074G>C	NP_001136121.1:p.Ala692Pro
NM_213599.2:c.2077G>C , LRG_868t1:c.2077G>C	NP_998764.1:p.Ala693Pro
XM_005252820.2:c.2035G>C	XP_005252877.2:p.Ala679Pro
XM_005252821.2:c.2032G>C	XP_005252878.2:p.Ala678Pro
XM_005252822.3:c.1999G>C	XP_005252879.1:p.Ala667Pro
XM_005252823.3:c.1996G>C	XP_005252880.1:p.Ala666Pro
XM_011519949.1:c.1984G>C	XP_011518251.1:p.Ala662Pro
XM_005252820.3:c.2035G>C	XP_005252877.2:p.Ala679Pro
XM_005252821.3:c.2032G>C	XP_005252878.2:p.Ala678Pro
XM_005252822.4:c.1999G>C	XP_005252879.1:p.Ala667Pro
XM_011519949.2:c.1984G>C	XP_011518251.1:p.Ala662Pro
NM_001142649.2:c.2074G>C	NP_001136121.1:p.Ala692Pro
NM_213599.3:c.2077G>C MANE Select	NP_998764.1:p.Ala693Pro