Canonical Allele Identifier: CA90387554
Community Standard Title: NM_004113.6(FGF12):c.427+182G>A
Gene: FGF12 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.192170276C>T , CM000665.2:g.192170276C>T GRCh38
NC_000003.11:g.191888065C>T , CM000665.1:g.191888065C>T GRCh37
NC_000003.10:g.193370759C>T NCBI36
NG_051966.1:g.562324G>A

Transcript Alleles

HGVS Amino-acid Change
NM_004113.6:c.427+182G>A MANE Select NP_004104.3:n.427+182G>A
ENST00000445105.7:c.427+182G>A MANE Select ENSP00000393686.1:n.427+182G>A
NM_001377292.1:c.316+182G>A NP_001364221.1:n.316+182G>A
NM_001377293.1:c.355+182G>A NP_001364222.1:n.355+182G>A
NM_001377294.1:c.355+182G>A NP_001364223.1:n.355+182G>A
NM_004113.5:c.427+182G>A NP_004104.3:n.427+182G>A
NM_021032.4:c.613+182G>A NP_066360.1:n.613+182G>A
NM_021032.5:c.613+182G>A NP_066360.1:n.613+182G>A
ENST00000430714.5:c.316+182G>A ENSP00000410125.1:n.316+182G>A
ENST00000440901.4:n.298+182G>A
ENST00000445105.6:c.427+182G>A ENSP00000393686.1:n.427+182G>A
ENST00000448795.5:c.355+182G>A ENSP00000412904.1:n.355+182G>A
ENST00000450716.5:c.427+182G>A ENSP00000397635.1:n.427+182G>A
ENST00000454309.6:c.613+182G>A ENSP00000413496.2:n.613+182G>A
ENST00000454309.7:c.613+182G>A ENSP00000413496.2:n.613+182G>A
ENST00000682572.1:n.417-26149G>A
ENST00000683451.1:c.427+182G>A ENSP00000508366.1:n.427+182G>A
ENST00000683451.2:c.427+182G>A ENSP00000508366.1:n.427+182G>A
ENST00000683935.1:c.427+182G>A ENSP00000507098.1:n.427+182G>A
ENST00000684282.1:c.355+182G>A ENSP00000507149.1:n.355+182G>A
ENST00000684728.1:c.355+182G>A ENSP00000506839.1:n.355+182G>A
XM_005247227.1:c.505+182G>A XP_005247284.1:n.505+182G>A
XM_005247227.2:c.505+182G>A XP_005247284.1:n.505+182G>A
XM_006713538.2:c.418+182G>A XP_006713601.1:n.418+182G>A
XM_006713538.3:c.418+182G>A XP_006713601.1:n.418+182G>A
XM_006713539.2:c.355+182G>A XP_006713602.1:n.355+182G>A
XM_024453395.1:c.355+182G>A XP_024309163.1:n.355+182G>A