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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:
CA359699031
Gene: FGF10
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chr5:g.44388477T>G (hg19)
chr5:g.44388375T>G (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.44388375T>G , CM000667.2:g.44388375T>G
GRCh38
NC_000005.9:g.44388477T>G , CM000667.1:g.44388477T>G
GRCh37
NC_000005.8:g.44424234T>G
NCBI36
NG_011446.1:g.5308A>C
Transcript Alleles
HGVS
Amino-acid Change
ENST00000264664.5:c.308A>C
MANE Select
ENSP00000264664.4:p.Lys103Thr
ENST00000264664.4:c.308A>C
ENSP00000264664.4:p.Lys103Thr
NM_004465.1:c.308A>C
NP_004456.1:p.Lys103Thr
XM_005248264.2:c.308A>C
XP_005248321.1:p.Lys103Thr
XM_005248264.4:c.308A>C
XP_005248321.1:p.Lys103Thr
NM_004465.2:c.308A>C
MANE Select
NP_004456.1:p.Lys103Thr
Search 100 bp 5'
Search 100 bp 3'