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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:
CA387674394
Gene: FGF9
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chr13:g.22255211G>T (hg19)
chr13:g.21681072G>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000013.11:g.21681072G>T , CM000675.2:g.21681072G>T
GRCh38
NC_000013.10:g.22255211G>T , CM000675.1:g.22255211G>T
GRCh37
NC_000013.9:g.21153211G>T
NCBI36
NG_016272.1:g.14997G>T
Transcript Alleles
HGVS
Amino-acid change
ENST00000382353.6:c.308G>T
MANE Select
ENSP00000371790.5:p.Gly103Val
ENST00000382353.5:c.308G>T
ENSP00000371790.5:p.Gly103Val
ENST00000461657.1:n.242G>T
NM_002010.2:c.308G>T
NP_002001.1:p.Gly103Val
XM_011534996.1:c.158G>T
XP_011533298.1:p.Gly53Val
XM_011534996.2:c.158G>T
XP_011533298.1:p.Gly53Val
NM_002010.3:c.308G>T
MANE Select
NP_002001.1:p.Gly103Val
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