Canonical Allele Identifier: CA132258603
Gene: NKX2-5 HGNC NCBI

Linked Data

dbSNP Id: rs977410059
gnomAD v4: 5-173232384-G-T
MyVariant Identifiers: chr5:g.172659387G>T (hg19) chr5:g.173232384G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.173232384G>T , CM000667.2:g.173232384G>T GRCh38
NC_000005.9:g.172659387G>T , CM000667.1:g.172659387G>T GRCh37
NC_000005.8:g.172591993G>T NCBI36
NG_013340.1:g.7929C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000329198.5:c.*185C>A MANE Select ENSP00000327758.4:n.*185C>A
ENST00000329198.4:c.*185C>A ENSP00000327758.4:n.*185C>A
NM_001166175.1:c.*1113C>A NP_001159647.1:n.*1113C>A
NM_001166176.1:c.*959C>A NP_001159648.1:n.*959C>A
NM_004387.3:c.*185C>A NP_004378.1:n.*185C>A
NM_004387.4:c.*185C>A MANE Select NP_004378.1:n.*185C>A
NM_001166175.2:c.*1113C>A NP_001159647.1:n.*1113C>A
NM_001166176.2:c.*959C>A NP_001159648.1:n.*959C>A
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