Canonical Allele Identifier: CA12726801

Gene: CA8

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60232231G>T , CM000670.2:g.60232231G>T	GRCh38
NC_000008.10:g.61144790G>T , CM000670.1:g.61144790G>T	GRCh37
NC_000008.9:g.61307344G>T	NCBI36
NG_023193.1:g.54165C>A
NG_023193.2:g.54165C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_004056.6:c.513+53C>A MANE Select	NP_004047.3:n.513+53C>A
ENST00000317995.5:c.513+53C>A MANE Select	ENSP00000314407.4:n.513+53C>A
NM_001321837.1:c.513+53C>A	NP_001308766.1:n.513+53C>A
NM_001321837.2:c.513+53C>A	NP_001308766.1:n.513+53C>A
NM_001321838.1:c.513+53C>A	NP_001308767.1:n.513+53C>A
NM_001321838.2:c.513+53C>A	NP_001308767.1:n.513+53C>A
NM_001321839.1:c.418-5296C>A	NP_001308768.1:n.418-5296C>A
NM_001321839.2:c.418-5296C>A	NP_001308768.1:n.418-5296C>A
NM_004056.4:c.513+53C>A	NP_004047.3:n.513+53C>A
NM_004056.5:c.513+53C>A	NP_004047.3:n.513+53C>A
NR_135821.1:n.789+53C>A
NR_135821.2:n.766+53C>A
ENST00000317995.4:c.513+53C>A	ENSP00000314407.4:n.513+53C>A
ENST00000524872.5:n.751+53C>A
ENST00000528666.1:n.285+53C>A
XM_011517585.1:c.513+53C>A	XP_011515887.1:n.513+53C>A
XM_011517586.1:c.418-5296C>A	XP_011515888.1:n.418-5296C>A
XM_017013818.1:c.261+53C>A	XP_016869307.1:n.261+53C>A