Canonical Allele Identifier: CA362161334
Gene: NKX2-5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.173232844A>G , CM000667.2:g.173232844A>G GRCh38
NC_000005.9:g.172659847A>G , CM000667.1:g.172659847A>G GRCh37
NC_000005.8:g.172592453A>G NCBI36
NG_013340.1:g.7469T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000329198.5:c.700T>C MANE Select ENSP00000327758.4:p.Ser234Pro
ENST00000329198.4:c.700T>C ENSP00000327758.4:p.Ser234Pro
NM_001166175.1:c.*653T>C NP_001159647.1:n.*653T>C
NM_001166176.1:c.*499T>C NP_001159648.1:n.*499T>C
NM_004387.3:c.700T>C NP_004378.1:p.Ser234Pro
NM_004387.4:c.700T>C MANE Select NP_004378.1:p.Ser234Pro
NM_001166175.2:c.*653T>C NP_001159647.1:n.*653T>C
NM_001166176.2:c.*499T>C NP_001159648.1:n.*499T>C