Canonical Allele Identifier: CA6147842
Gene: CHKA HGNC NCBI
MyVariant.info:
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68074785C>T , CM000673.2:g.68074785C>T GRCh38
NC_000011.9:g.67842252C>T , CM000673.1:g.67842252C>T GRCh37
NC_000011.8:g.67598828C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000265689.9:c.562G>A MANE Select ENSP00000265689.4:p.Ala188Thr
ENST00000265689.8:c.562G>A ENSP00000265689.4:p.Ala188Thr
ENST00000356135.9:c.508G>A ENSP00000348454.4:p.Ala170Thr
ENST00000528235.5:n.190G>A
ENST00000530730.1:n.472G>A
ENST00000531341.1:c.196G>A ENSP00000435032.1:p.Ala66Thr
ENST00000533910.5:n.453G>A
NM_001277.2:c.562G>A NP_001268.2:p.Ala188Thr
NM_212469.1:c.508G>A NP_997634.1:p.Ala170Thr
XR_428904.2:n.773G>A
XR_428905.1:n.2132G>A
XR_949772.1:n.719G>A
XR_949773.1:n.728-3928G>A
XR_949774.1:n.1490G>A
XR_949775.1:n.2087-3928G>A
XR_949777.1:n.871G>A
XM_017017147.1:c.517-3928G>A XP_016872636.1:n.517-3928G>A
XM_017017148.2:c.34G>A XP_016872637.1:p.Ala12Thr
XR_002957119.1:n.896G>A
XR_428904.3:n.774G>A
XR_428905.3:n.6346G>A
XR_949772.2:n.702G>A
XR_949773.2:n.729-3928G>A
NM_001277.3:c.562G>A MANE Select NP_001268.2:p.Ala188Thr
NM_001376219.1:c.592G>A NP_001363148.1:p.Ala198Thr
NM_001376220.1:c.517-3928G>A NP_001363149.1:n.517-3928G>A
NM_001376221.1:c.196G>A NP_001363150.1:p.Ala66Thr
NM_001376222.1:c.142G>A NP_001363151.1:p.Ala48Thr
NM_212469.2:c.508G>A NP_997634.1:p.Ala170Thr
NR_164782.1:n.773G>A