Canonical Allele Identifier: CA447974716
Gene: NKX2-5 HGNC NCBI

Linked Data

gnomAD v4: 5-173232884-C-T
MyVariant Identifiers: chr5:g.172659887C>T (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.173232884C>T , CM000667.2:g.173232884C>T GRCh38
NC_000005.9:g.172659887C>T , CM000667.1:g.172659887C>T GRCh37
NC_000005.8:g.172592493C>T NCBI36
NG_013340.1:g.7429G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000329198.5:c.660G>A MANE Select ENSP00000327758.4:p.Val220=
ENST00000329198.4:c.660G>A ENSP00000327758.4:p.Val220=
NM_001166175.1:c.*613G>A NP_001159647.1:n.*613G>A
NM_001166176.1:c.*459G>A NP_001159648.1:n.*459G>A
NM_004387.3:c.660G>A NP_004378.1:p.Val220=
NM_004387.4:c.660G>A MANE Select NP_004378.1:p.Val220=
NM_001166175.2:c.*613G>A NP_001159647.1:n.*613G>A
NM_001166176.2:c.*459G>A NP_001159648.1:n.*459G>A
Search 100 bp 5'
Search 100 bp 3'