Canonical Allele Identifier: CA2755836
Community Standard Title: NM_004113.6(FGF12):c.118G>A (p.Asp40Asn)
Gene: FGF12 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.192360434C>T , CM000665.2:g.192360434C>T GRCh38
NC_000003.11:g.192078223C>T , CM000665.1:g.192078223C>T GRCh37
NC_000003.10:g.193560917C>T NCBI36
NG_051966.1:g.372166G>A

Transcript Alleles

HGVS Amino-acid Change
NM_004113.6:c.118G>A MANE Select NP_004104.3:p.Asp40Asn
ENST00000445105.7:c.118G>A MANE Select ENSP00000393686.1:p.Asp40Asn
NM_001377292.1:c.14-24970G>A NP_001364221.1:n.14-24970G>A
NM_001377293.1:c.46G>A NP_001364222.1:p.Asp16Asn
NM_001377294.1:c.46G>A NP_001364223.1:p.Asp16Asn
NM_004113.5:c.118G>A NP_004104.3:p.Asp40Asn
NM_021032.4:c.304G>A NP_066360.1:p.Asp102Asn
NM_021032.5:c.304G>A NP_066360.1:p.Asp102Asn
ENST00000418610.1:c.118G>A ENSP00000395517.1:p.Asp40Asn
ENST00000430714.5:c.14-24970G>A ENSP00000410125.1:n.14-24970G>A
ENST00000445105.6:c.118G>A ENSP00000393686.1:p.Asp40Asn
ENST00000448795.5:c.46G>A ENSP00000412904.1:p.Asp16Asn
ENST00000450716.5:c.118G>A ENSP00000397635.1:p.Asp40Asn
ENST00000454309.6:c.304G>A ENSP00000413496.2:p.Asp102Asn
ENST00000454309.7:c.304G>A ENSP00000413496.2:p.Asp102Asn
ENST00000682572.1:n.306G>A
ENST00000682819.1:n.337G>A
ENST00000682819.2:n.371G>A
ENST00000683451.1:c.118G>A ENSP00000508366.1:p.Asp40Asn
ENST00000683451.2:c.118G>A ENSP00000508366.1:p.Asp40Asn
ENST00000683935.1:c.118G>A ENSP00000507098.1:p.Asp40Asn
ENST00000684282.1:c.46G>A ENSP00000507149.1:p.Asp16Asn
ENST00000684728.1:c.46G>A ENSP00000506839.1:p.Asp16Asn
XM_005247227.1:c.196G>A XP_005247284.1:p.Asp66Asn
XM_005247227.2:c.196G>A XP_005247284.1:p.Asp66Asn
XM_006713538.2:c.109G>A XP_006713601.1:p.Asp37Asn
XM_006713538.3:c.109G>A XP_006713601.1:p.Asp37Asn
XM_006713539.2:c.46G>A XP_006713602.1:p.Asp16Asn
XM_024453395.1:c.46G>A XP_024309163.1:p.Asp16Asn