Canonical Allele Identifier: CA3563583
Gene: NKX2-5 HGNC NCBI

Linked Data

dbSNP Id: rs759953857
ExAC: 5:172659558 C / T
gnomAD v2: 5-172659558-C-T
gnomAD v4: 5-173232555-C-T
MyVariant Identifiers: chr5:g.172659558C>T (hg19) chr5:g.173232555C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.173232555C>T , CM000667.2:g.173232555C>T GRCh38
NC_000005.9:g.172659558C>T , CM000667.1:g.172659558C>T GRCh37
NC_000005.8:g.172592164C>T NCBI36
NG_013340.1:g.7758G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000329198.5:c.*14G>A MANE Select ENSP00000327758.4:n.*14G>A
ENST00000329198.4:c.*14G>A ENSP00000327758.4:n.*14G>A
NM_001166175.1:c.*942G>A NP_001159647.1:n.*942G>A
NM_001166176.1:c.*788G>A NP_001159648.1:n.*788G>A
NM_004387.3:c.*14G>A NP_004378.1:n.*14G>A
NM_004387.4:c.*14G>A MANE Select NP_004378.1:n.*14G>A
NM_001166175.2:c.*942G>A NP_001159647.1:n.*942G>A
NM_001166176.2:c.*788G>A NP_001159648.1:n.*788G>A
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