Canonical Allele Identifier: CA396476124

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.69329171G>A , CM000678.2:g.69329171G>A GRCh38
NC_000016.9:g.69363074G>A , CM000678.1:g.69363074G>A GRCh37
NC_000016.8:g.67920575G>A NCBI36
NG_009013.1:g.15453C>T
NG_033043.1:g.6425C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000288022.2:c.583C>T (PDF) MANE Select ENSP00000288022.1:p.Pro195Ser
ENST00000306875.10:c.*35C>T (COG8) MANE Select ENSP00000305459.6:n.*35C>T
ENST00000288022.1:c.583C>T (PDF) ENSP00000288022.1:p.Pro195Ser
ENST00000306875.8:c.*35C>T (COG8) ENSP00000305459.4:n.*35C>T
ENST00000562595.5:c.550-5468C>T (COG8)
ENST00000562949.1:c.360C>T ENSP00000457718.1:p.Thr120=
NM_022341.1:c.583C>T (PDF) NP_071736.1:p.Pro195Ser
NM_032382.4:c.*35C>T (COG8) NP_115758.3:n.*35C>T
NM_022341.2:c.583C>T (PDF) MANE Select NP_071736.1:p.Pro195Ser
NM_032382.5:c.*35C>T (COG8) MANE Select NP_115758.3:n.*35C>T
NM_001379261.1:c.*35C>T (COG8) NP_001366190.1:n.*35C>T
NM_001379262.1:c.1768C>T (COG8) NP_001366191.1:p.Pro590Ser
NM_001379263.1:c.*35C>T (COG8) NP_001366192.1:n.*35C>T
NM_001379264.1:c.*32C>T (COG8) NP_001366193.1:n.*32C>T
NM_001379265.1:c.1591C>T (COG8) NP_001366194.1:p.Pro531Ser
NM_001379266.1:c.1422C>T (COG8) NP_001366195.1:p.Thr474=