Canonical Allele Identifier: CA1771041940
Gene: NKX2-6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.23702913C= , CM000670.2:g.23702913C= GRCh38
NC_000008.10:g.23560426C= , CM000670.1:g.23560426C= GRCh37
NC_000008.9:g.23616371C= NCBI36
NG_030636.1:g.8686G=

Transcript Alleles

HGVS Amino-acid change
ENST00000325017.4:c.444G= MANE Select ENSP00000320089.3:p.Glu148=
ENST00000325017.3:c.444G= ENSP00000320089.3:p.Glu148=
NM_001136271.2:c.444G= NP_001129743.2:p.Glu148=
XR_001745842.1:n.1312+34163C=
NM_001136271.3:c.444G= MANE Select NP_001129743.2:p.Glu148=