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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:
CA361921530
Gene: HAND1
HGNC
NCBI
Linked Data
dbSNP Id:
rs1313460396
gnomAD v2:
5-153857052-G-A
gnomAD v3:
5-154477492-G-A
gnomAD v4:
5-154477492-G-A
COSMIC:
COSM290318
MyVariant Identifiers:
chr5:g.153857052G>A (hg19)
chr5:g.154477492G>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.154477492G>A , CM000667.2:g.154477492G>A
GRCh38
NC_000005.9:g.153857052G>A , CM000667.1:g.153857052G>A
GRCh37
NC_000005.8:g.153837245G>A
NCBI36
NG_052889.1:g.5773C>T
Transcript Alleles
HGVS
Amino-acid change
ENST00000231121.3:c.517C>T
MANE Select
ENSP00000231121.2:p.Arg173Cys
ENST00000231121.2:c.517C>T
ENSP00000231121.2:p.Arg173Cys
NM_004821.2:c.517C>T
NP_004812.1:p.Arg173Cys
XM_005268531.1:c.517C>T
XP_005268588.1:p.Arg173Cys
NM_004821.3:c.517C>T
MANE Select
NP_004812.1:p.Arg173Cys
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