Canonical Allele Identifier: CA3563577
Gene: NKX2-5 HGNC NCBI

Linked Data

dbSNP Id: rs748427974
ExAC: 5:172659523 G / A
gnomAD v2: 5-172659523-G-A
gnomAD v4: 5-173232520-G-A
MyVariant Identifiers: chr5:g.172659523G>A (hg19) chr5:g.173232520G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.173232520G>A , CM000667.2:g.173232520G>A GRCh38
NC_000005.9:g.172659523G>A , CM000667.1:g.172659523G>A GRCh37
NC_000005.8:g.172592129G>A NCBI36
NG_013340.1:g.7793C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000329198.5:c.*49C>T MANE Select ENSP00000327758.4:n.*49C>T
ENST00000329198.4:c.*49C>T ENSP00000327758.4:n.*49C>T
NM_001166175.1:c.*977C>T NP_001159647.1:n.*977C>T
NM_001166176.1:c.*823C>T NP_001159648.1:n.*823C>T
NM_004387.3:c.*49C>T NP_004378.1:n.*49C>T
NM_004387.4:c.*49C>T MANE Select NP_004378.1:n.*49C>T
NM_001166175.2:c.*977C>T NP_001159647.1:n.*977C>T
NM_001166176.2:c.*823C>T NP_001159648.1:n.*823C>T
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