Canonical Allele Identifier: CA1259509817
Community Standard Title: NM_001329752.2(FAM136A):c.547C= (p.Gln183=)
Gene: FAM136A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.70300842G= , CM000664.2:g.70300842G= GRCh38
NC_000002.11:g.70527974G= , CM000664.1:g.70527974G= GRCh37
NC_000002.10:g.70381478G= NCBI36
NG_051290.1:g.6247C=

Transcript Alleles

HGVS Amino-acid Change
NM_001329752.2:c.547C= MANE Select NP_001316681.1:p.Gln183=
ENST00000430566.6:c.547C= MANE Select ENSP00000397269.1:p.Gln183=
NM_001329752.1:c.547C= NP_001316681.1:p.Gln183=
NM_001329753.1:c.481C= NP_001316682.1:p.Gln161=
NM_001329753.2:c.481C= NP_001316682.1:p.Gln161=
NM_001329755.1:c.133C= NP_001316684.1:p.Gln45=
NM_001329755.2:c.133C= NP_001316684.1:p.Gln45=
NM_001329757.1:c.133C= NP_001316686.1:p.Gln45=
NM_001329757.2:c.133C= NP_001316686.1:p.Gln45=
NM_001329758.1:c.133C= NP_001316687.1:p.Gln45=
NM_001329758.2:c.133C= NP_001316687.1:p.Gln45=
NM_032822.2:c.226C= NP_116211.2:p.Gln76=
NM_032822.3:c.226C= NP_116211.2:p.Gln76=
ENST00000037869.7:c.226C= ENSP00000037869.3:p.Gln76=
ENST00000037869.8:c.226C= ENSP00000037869.3:p.Gln76=
ENST00000430566.5:c.547C= ENSP00000397269.1:p.Gln183=
ENST00000438759.1:c.436C= ENSP00000390840.1:p.Gln146=
ENST00000450256.1:c.*104C= ENSP00000391468.1:n.*104C=
ENST00000460307.1:n.894C=
ENST00000498665.1:n.227C=
ENST00000711613.1:c.*104C= ENSP00000518809.1:n.*104C=
XM_005264620.1:c.133C= XP_005264677.1:p.Gln45=