Canonical Allele Identifier: CA6147839
Community Standard Title: NM_001277.3(CHKA):c.580C>T (p.Pro194Ser)
Gene: CHKA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.68074767G>A , CM000673.2:g.68074767G>A GRCh38
NC_000011.9:g.67842234G>A , CM000673.1:g.67842234G>A GRCh37
NC_000011.8:g.67598810G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_001277.3:c.580C>T MANE Select NP_001268.2:p.Pro194Ser
ENST00000265689.9:c.580C>T MANE Select ENSP00000265689.4:p.Pro194Ser
NM_001277.2:c.580C>T NP_001268.2:p.Pro194Ser
NM_001376219.1:c.610C>T NP_001363148.1:p.Pro204Ser
NM_001376220.1:c.517-3910C>T NP_001363149.1:n.517-3910C>T
NM_001376221.1:c.214C>T NP_001363150.1:p.Pro72Ser
NM_001376222.1:c.160C>T NP_001363151.1:p.Pro54Ser
NM_212469.1:c.526C>T NP_997634.1:p.Pro176Ser
NM_212469.2:c.526C>T NP_997634.1:p.Pro176Ser
NR_164782.1:n.791C>T
ENST00000265689.8:c.580C>T ENSP00000265689.4:p.Pro194Ser
ENST00000356135.9:c.526C>T ENSP00000348454.4:p.Pro176Ser
ENST00000528235.5:n.208C>T
ENST00000530730.1:n.490C>T
ENST00000531341.1:c.214C>T ENSP00000435032.1:p.Pro72Ser
ENST00000533910.5:n.471C>T
XM_017017147.1:c.517-3910C>T XP_016872636.1:n.517-3910C>T
XM_017017148.2:c.52C>T XP_016872637.1:p.Pro18Ser
XR_002957119.1:n.914C>T
XR_428904.2:n.791C>T
XR_428904.3:n.792C>T
XR_428905.1:n.2150C>T
XR_428905.3:n.6364C>T
XR_949772.1:n.737C>T
XR_949772.2:n.720C>T
XR_949773.1:n.728-3910C>T
XR_949773.2:n.729-3910C>T
XR_949774.1:n.1508C>T
XR_949775.1:n.2087-3910C>T
XR_949777.1:n.889C>T