Canonical Allele Identifier: CA362161004
Gene: NKX2-5 HGNC NCBI

Linked Data

dbSNP Id: rs1761343333
MyVariant Identifiers: chr5:g.172659676T>G (hg19) chr5:g.173232673T>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.173232673T>G , CM000667.2:g.173232673T>G GRCh38
NC_000005.9:g.172659676T>G , CM000667.1:g.172659676T>G GRCh37
NC_000005.8:g.172592282T>G NCBI36
NG_013340.1:g.7640A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000329198.5:c.871A>C MANE Select ENSP00000327758.4:p.Asn291His
ENST00000329198.4:c.871A>C ENSP00000327758.4:p.Asn291His
NM_001166175.1:c.*824A>C NP_001159647.1:n.*824A>C
NM_001166176.1:c.*670A>C NP_001159648.1:n.*670A>C
NM_004387.3:c.871A>C NP_004378.1:p.Asn291His
NM_004387.4:c.871A>C MANE Select NP_004378.1:p.Asn291His
NM_001166175.2:c.*824A>C NP_001159647.1:n.*824A>C
NM_001166176.2:c.*670A>C NP_001159648.1:n.*670A>C
Search 100 bp 5'
Search 100 bp 3'