×
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
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA359699017
Gene: FGF10
HGNC
NCBI
Linked Data
dbSNP Id:
rs1742158130
MyVariant Identifiers:
chr5:g.44388474T>C (hg19)
chr5:g.44388372T>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.44388372T>C , CM000667.2:g.44388372T>C
GRCh38
NC_000005.9:g.44388474T>C , CM000667.1:g.44388474T>C
GRCh37
NC_000005.8:g.44424231T>C
NCBI36
NG_011446.1:g.5311A>G
Transcript Alleles
HGVS
Amino-acid Change
ENST00000264664.5:c.311A>G
MANE Select
ENSP00000264664.4:p.Glu104Gly
ENST00000264664.4:c.311A>G
ENSP00000264664.4:p.Glu104Gly
NM_004465.1:c.311A>G
NP_004456.1:p.Glu104Gly
XM_005248264.2:c.311A>G
XP_005248321.1:p.Glu104Gly
XM_005248264.4:c.311A>G
XP_005248321.1:p.Glu104Gly
NM_004465.2:c.311A>G
MANE Select
NP_004456.1:p.Glu104Gly
Search 100 bp 5'
Search 100 bp 3'