Canonical Allele Identifier: CA4758962

Gene: CA8

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.60281029C>T , CM000670.2:g.60281029C>T	GRCh38
NC_000008.10:g.61193588C>T , CM000670.1:g.61193588C>T	GRCh37
NC_000008.9:g.61356142C>T	NCBI36
NG_023193.1:g.5367G>A
NG_023193.2:g.5367G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_004056.6:c.100+19G>A MANE Select	NP_004047.3:n.100+19G>A
ENST00000317995.5:c.100+19G>A MANE Select	ENSP00000314407.4:n.100+19G>A
NM_001321837.1:c.100+19G>A	NP_001308766.1:n.100+19G>A
NM_001321837.2:c.100+19G>A	NP_001308766.1:n.100+19G>A
NM_001321838.1:c.100+19G>A	NP_001308767.1:n.100+19G>A
NM_001321838.2:c.100+19G>A	NP_001308767.1:n.100+19G>A
NM_001321839.1:c.100+19G>A	NP_001308768.1:n.100+19G>A
NM_001321839.2:c.100+19G>A	NP_001308768.1:n.100+19G>A
NM_004056.4:c.100+19G>A	NP_004047.3:n.100+19G>A
NM_004056.5:c.100+19G>A	NP_004047.3:n.100+19G>A
NR_135821.1:n.376+19G>A
NR_135821.2:n.353+19G>A
ENST00000317995.4:c.100+19G>A	ENSP00000314407.4:n.100+19G>A
ENST00000524872.5:n.338+19G>A
ENST00000529918.1:n.277+19G>A
XM_011517585.1:c.100+19G>A	XP_011515887.1:n.100+19G>A
XM_011517586.1:c.100+19G>A	XP_011515888.1:n.100+19G>A
XM_011517587.1:c.100+19G>A	XP_011515889.1:n.100+19G>A
XM_011517587.2:c.100+19G>A	XP_011515889.1:n.100+19G>A
XM_011517588.1:c.100+19G>A	XP_011515890.1:n.100+19G>A
XM_011517588.3:c.100+19G>A	XP_011515890.1:n.100+19G>A
XM_017013818.1:c.-246+19G>A	XP_016869307.1:n.-246+19G>A