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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA362160990
Gene: NKX2-5
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chr5:g.172659671G>T (hg19)
chr5:g.173232668G>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.173232668G>T , CM000667.2:g.173232668G>T
GRCh38
NC_000005.9:g.172659671G>T , CM000667.1:g.172659671G>T
GRCh37
NC_000005.8:g.172592277G>T
NCBI36
NG_013340.1:g.7645C>A
Transcript Alleles
HGVS
Amino-acid change
ENST00000329198.5:c.876C>A
MANE Select
ENSP00000327758.4:p.Phe292Leu
ENST00000329198.4:c.876C>A
ENSP00000327758.4:p.Phe292Leu
NM_001166175.1:c.*829C>A
NP_001159647.1:n.*829C>A
NM_001166176.1:c.*675C>A
NP_001159648.1:n.*675C>A
NM_004387.3:c.876C>A
NP_004378.1:p.Phe292Leu
NM_004387.4:c.876C>A
MANE Select
NP_004378.1:p.Phe292Leu
NM_001166175.2:c.*829C>A
NP_001159647.1:n.*829C>A
NM_001166176.2:c.*675C>A
NP_001159648.1:n.*675C>A
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