Canonical Allele Identifier: CA564687709
Gene: NKX2-5 HGNC NCBI

Linked Data

dbSNP Id: rs1284583210
gnomAD v2: 5-172659524-A-G
gnomAD v3: 5-173232521-A-G
gnomAD v4: 5-173232521-A-G
COSMIC: COSN26504989
MyVariant Identifiers: chr5:g.172659524A>G (hg19) chr5:g.173232521A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.173232521A>G , CM000667.2:g.173232521A>G GRCh38
NC_000005.9:g.172659524A>G , CM000667.1:g.172659524A>G GRCh37
NC_000005.8:g.172592130A>G NCBI36
NG_013340.1:g.7792T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000329198.5:c.*48T>C MANE Select ENSP00000327758.4:n.*48T>C
ENST00000329198.4:c.*48T>C ENSP00000327758.4:n.*48T>C
NM_001166175.1:c.*976T>C NP_001159647.1:n.*976T>C
NM_001166176.1:c.*822T>C NP_001159648.1:n.*822T>C
NM_004387.3:c.*48T>C NP_004378.1:n.*48T>C
NM_004387.4:c.*48T>C MANE Select NP_004378.1:n.*48T>C
NM_001166175.2:c.*976T>C NP_001159647.1:n.*976T>C
NM_001166176.2:c.*822T>C NP_001159648.1:n.*822T>C
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