Canonical Allele Identifier: CA3563581
Gene: NKX2-5 HGNC NCBI

Linked Data

dbSNP Id: rs771371710
ExAC: 5:172659552 G / A
gnomAD v2: 5-172659552-G-A
gnomAD v4: 5-173232549-G-A
MyVariant Identifiers: chr5:g.172659552G>A (hg19) chr5:g.173232549G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.173232549G>A , CM000667.2:g.173232549G>A GRCh38
NC_000005.9:g.172659552G>A , CM000667.1:g.172659552G>A GRCh37
NC_000005.8:g.172592158G>A NCBI36
NG_013340.1:g.7764C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000329198.5:c.*20C>T MANE Select ENSP00000327758.4:n.*20C>T
ENST00000329198.4:c.*20C>T ENSP00000327758.4:n.*20C>T
NM_001166175.1:c.*948C>T NP_001159647.1:n.*948C>T
NM_001166176.1:c.*794C>T NP_001159648.1:n.*794C>T
NM_004387.3:c.*20C>T NP_004378.1:n.*20C>T
NM_004387.4:c.*20C>T MANE Select NP_004378.1:n.*20C>T
NM_001166175.2:c.*948C>T NP_001159647.1:n.*948C>T
NM_001166176.2:c.*794C>T NP_001159648.1:n.*794C>T
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