Canonical Allele Identifier: CA2543523454
Gene: NKX2-5 HGNC NCBI

Linked Data

gnomAD v4: 5-173232482-G-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.173232482G>T , CM000667.2:g.173232482G>T GRCh38
NC_000005.9:g.172659485G>T , CM000667.1:g.172659485G>T GRCh37
NC_000005.8:g.172592091G>T NCBI36
NG_013340.1:g.7831C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000329198.5:c.*87C>A MANE Select ENSP00000327758.4:n.*87C>A
ENST00000329198.4:c.*87C>A ENSP00000327758.4:n.*87C>A
NM_001166175.1:c.*1015C>A NP_001159647.1:n.*1015C>A
NM_001166176.1:c.*861C>A NP_001159648.1:n.*861C>A
NM_004387.3:c.*87C>A NP_004378.1:n.*87C>A
NM_004387.4:c.*87C>A MANE Select NP_004378.1:n.*87C>A
NM_001166175.2:c.*1015C>A NP_001159647.1:n.*1015C>A
NM_001166176.2:c.*861C>A NP_001159648.1:n.*861C>A
Search 100 bp 5'
Search 100 bp 3'