Canonical Allele Identifier: CA1084495543
Gene: NKX2-5 HGNC NCBI

Linked Data

dbSNP Id: rs372969084
gnomAD v3: 5-173232557-C-T
gnomAD v4: 5-173232557-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.173232557C>T , CM000667.2:g.173232557C>T GRCh38
NC_000005.9:g.172659560C>T , CM000667.1:g.172659560C>T GRCh37
NC_000005.8:g.172592166C>T NCBI36
NG_013340.1:g.7756G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000329198.5:c.*12G>A MANE Select ENSP00000327758.4:n.*12G>A
ENST00000329198.4:c.*12G>A ENSP00000327758.4:n.*12G>A
NM_001166175.1:c.*940G>A NP_001159647.1:n.*940G>A
NM_001166176.1:c.*786G>A NP_001159648.1:n.*786G>A
NM_004387.3:c.*12G>A NP_004378.1:n.*12G>A
NM_004387.4:c.*12G>A MANE Select NP_004378.1:n.*12G>A
NM_001166175.2:c.*940G>A NP_001159647.1:n.*940G>A
NM_001166176.2:c.*786G>A NP_001159648.1:n.*786G>A
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