Canonical Allele Identifier: CA336338341
Gene: FGF13 HGNC NCBI

Identifiers and link-outs to other resources

dbSNP Id: rs10521792

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.139035247A>G , CM000685.2:g.139035247A>G GRCh38
NC_000023.10:g.138117409A>G , CM000685.1:g.138117409A>G GRCh37
NC_000023.9:g.137945075A>G NCBI36

Transcript Alleles

HGVS Amino-acid change
NM_001139498.1:c.49+168812T>C VV NP_001132970.1:p.=
NM_001139500.1:c.49+168812T>C VV NP_001132972.1:p.=
NM_001139501.1:c.-148-44630T>C VV NP_001132973.1:p.=
XM_005262399.1:c.49+168812T>C XP_005262456.1:p.=
XM_011531315.1:c.82+168169T>C XP_011529617.1:p.=
XM_024452352.1:c.82+168169T>C XP_024308120.1:p.=
ENST00000421460.1:c.-113+168169T>C ENSP00000388688.1:p.=
ENST00000436198.5:c.49+168812T>C ENSP00000396198.2:p.=
ENST00000448673.1:c.49+168812T>C ENSP00000411999.1:p.=
ENST00000626909.2:c.49+168812T>C ENSP00000487411.1:p.=