Canonical Allele Identifier: CA1601615640
Gene: NKX2-5 HGNC NCBI

Linked Data

dbSNP Id: rs1343638027
gnomAD v4: 5-173232507-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.173232507C>T , CM000667.2:g.173232507C>T GRCh38
NC_000005.9:g.172659510C>T , CM000667.1:g.172659510C>T GRCh37
NC_000005.8:g.172592116C>T NCBI36
NG_013340.1:g.7806G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000329198.5:c.*62G>A MANE Select ENSP00000327758.4:n.*62G>A
ENST00000329198.4:c.*62G>A ENSP00000327758.4:n.*62G>A
NM_001166175.1:c.*990G>A NP_001159647.1:n.*990G>A
NM_001166176.1:c.*836G>A NP_001159648.1:n.*836G>A
NM_004387.3:c.*62G>A NP_004378.1:n.*62G>A
NM_004387.4:c.*62G>A MANE Select NP_004378.1:n.*62G>A
NM_001166175.2:c.*990G>A NP_001159647.1:n.*990G>A
NM_001166176.2:c.*836G>A NP_001159648.1:n.*836G>A
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