Canonical Allele Identifier: CA379920827

Gene: ANO5

Linked Data

• MyVariant Identifiers: chr11:g.22271872C>A (hg19) ; chr11:g.22250326C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.22250326C>A , CM000673.2:g.22250326C>A	GRCh38
NC_000011.9:g.22271872C>A , CM000673.1:g.22271872C>A	GRCh37
NC_000011.8:g.22228448C>A	NCBI36
NG_015844.1:g.62151C>A , LRG_868:g.62151C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682089.1:n.288C>A
ENST00000682266.1:c.518C>A	ENSP00000507766.1:p.Ala173Asp
ENST00000682341.1:c.926C>A	ENSP00000508251.1:p.Ala309Asp
ENST00000682530.1:c.*900C>A	ENSP00000506805.1:n.*900C>A
ENST00000683197.1:c.926C>A	ENSP00000507641.1:p.Ala309Asp
ENST00000683411.1:c.518C>A	ENSP00000508397.1:p.Ala173Asp
ENST00000683437.1:c.518C>A	ENSP00000508408.1:p.Ala173Asp
ENST00000683613.1:n.1962C>A
ENST00000683834.1:n.1168C>A
ENST00000684663.1:c.923C>A	ENSP00000508009.1:p.Ala308Asp
ENST00000324559.9:c.968C>A MANE Select	ENSP00000315371.9:p.Ala323Asp
ENST00000648804.1:n.1303C>A
ENST00000324559.8:c.968C>A	ENSP00000315371.8:p.Ala323Asp
NM_001142649.1:c.965C>A	NP_001136121.1:p.Ala322Asp
NM_213599.2:c.968C>A , LRG_868t1:c.968C>A	NP_998764.1:p.Ala323Asp
XM_005252820.2:c.926C>A	XP_005252877.2:p.Ala309Asp
XM_005252821.2:c.923C>A	XP_005252878.2:p.Ala308Asp
XM_005252822.3:c.890C>A	XP_005252879.1:p.Ala297Asp
XM_005252823.3:c.887C>A	XP_005252880.1:p.Ala296Asp
XM_011519949.1:c.875C>A	XP_011518251.1:p.Ala292Asp
XM_005252820.3:c.926C>A	XP_005252877.2:p.Ala309Asp
XM_005252821.3:c.923C>A	XP_005252878.2:p.Ala308Asp
XM_005252822.4:c.890C>A	XP_005252879.1:p.Ala297Asp
XM_011519949.2:c.875C>A	XP_011518251.1:p.Ala292Asp
NM_001142649.2:c.965C>A	NP_001136121.1:p.Ala322Asp
NM_213599.3:c.968C>A MANE Select	NP_998764.1:p.Ala323Asp