Canonical Allele Identifier: CA132258638
Gene: NKX2-5 HGNC NCBI

Linked Data

dbSNP Id: rs1003777077
gnomAD v2: 5-172659505-C-T
gnomAD v3: 5-173232502-C-T
gnomAD v4: 5-173232502-C-T
MyVariant Identifiers: chr5:g.172659505C>T (hg19) chr5:g.173232502C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.173232502C>T , CM000667.2:g.173232502C>T GRCh38
NC_000005.9:g.172659505C>T , CM000667.1:g.172659505C>T GRCh37
NC_000005.8:g.172592111C>T NCBI36
NG_013340.1:g.7811G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000329198.5:c.*67G>A MANE Select ENSP00000327758.4:n.*67G>A
ENST00000329198.4:c.*67G>A ENSP00000327758.4:n.*67G>A
NM_001166175.1:c.*995G>A NP_001159647.1:n.*995G>A
NM_001166176.1:c.*841G>A NP_001159648.1:n.*841G>A
NM_004387.3:c.*67G>A NP_004378.1:n.*67G>A
NM_004387.4:c.*67G>A MANE Select NP_004378.1:n.*67G>A
NM_001166175.2:c.*995G>A NP_001159647.1:n.*995G>A
NM_001166176.2:c.*841G>A NP_001159648.1:n.*841G>A
Search 100 bp 5'
Search 100 bp 3'