Canonical Allele Identifier: CA3563586
Gene: NKX2-5 HGNC NCBI

Linked Data

dbSNP Id: rs760405249
ExAC: 5:172659566 C / G
gnomAD v2: 5-172659566-C-G
gnomAD v4: 5-173232563-C-G
MyVariant Identifiers: chr5:g.172659566C>G (hg19) chr5:g.173232563C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.173232563C>G , CM000667.2:g.173232563C>G GRCh38
NC_000005.9:g.172659566C>G , CM000667.1:g.172659566C>G GRCh37
NC_000005.8:g.172592172C>G NCBI36
NG_013340.1:g.7750G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000329198.5:c.*6G>C MANE Select ENSP00000327758.4:n.*6G>C
ENST00000329198.4:c.*6G>C ENSP00000327758.4:n.*6G>C
NM_001166175.1:c.*934G>C NP_001159647.1:n.*934G>C
NM_001166176.1:c.*780G>C NP_001159648.1:n.*780G>C
NM_004387.3:c.*6G>C NP_004378.1:n.*6G>C
NM_004387.4:c.*6G>C MANE Select NP_004378.1:n.*6G>C
NM_001166175.2:c.*934G>C NP_001159647.1:n.*934G>C
NM_001166176.2:c.*780G>C NP_001159648.1:n.*780G>C
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