Canonical Allele Identifier: CA2676541967
Gene: NKX2-5 HGNC NCBI

Linked Data

gnomAD v4: 5-173233281-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.173233281A>G , CM000667.2:g.173233281A>G GRCh38
NC_000005.9:g.172660284A>G , CM000667.1:g.172660284A>G GRCh37
NC_000005.8:g.172592890A>G NCBI36
NG_013340.1:g.7032T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000329198.5:c.335-72T>C MANE Select ENSP00000327758.4:n.335-72T>C
ENST00000329198.4:c.335-72T>C ENSP00000327758.4:n.335-72T>C
ENST00000424406.2:c.*216T>C ENSP00000395378.2:n.*216T>C
ENST00000521848.1:c.*62T>C ENSP00000427906.1:n.*62T>C
NM_001166175.1:c.*216T>C NP_001159647.1:n.*216T>C
NM_001166176.1:c.*62T>C NP_001159648.1:n.*62T>C
NM_004387.3:c.335-72T>C NP_004378.1:n.335-72T>C
NM_004387.4:c.335-72T>C MANE Select NP_004378.1:n.335-72T>C
NM_001166175.2:c.*216T>C NP_001159647.1:n.*216T>C
NM_001166176.2:c.*62T>C NP_001159648.1:n.*62T>C
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