Canonical Allele Identifier: CA358525238
Community Standard Title: NM_021871.4(FGA):c.1916A>C (p.Lys639Thr)
Gene: FGA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.154585513T>G , CM000666.2:g.154585513T>G GRCh38
NC_000004.11:g.155506665T>G , CM000666.1:g.155506665T>G GRCh37
NC_000004.10:g.155726115T>G NCBI36
NG_008832.1:g.10233A>C , LRG_557:g.10233A>C

Transcript Alleles

HGVS Amino-acid Change
NM_021871.4:c.1916A>C MANE Select NP_068657.1:p.Lys639Thr
ENST00000403106.8:c.1916A>C MANE Select ENSP00000385981.3:p.Lys639Thr
NM_000508.3:c.1891+25A>C , LRG_557t1:c.1891+25A>C NP_000499.1:n.1891+25A>C
NM_000508.4:c.1891+25A>C NP_000499.1:n.1891+25A>C
NM_000508.5:c.1891+25A>C NP_000499.1:n.1891+25A>C
NM_021871.2:c.1916A>C , LRG_557t2:c.1916A>C NP_068657.1:p.Lys639Thr
NM_021871.3:c.1916A>C NP_068657.1:p.Lys639Thr
ENST00000302053.7:c.1891+25A>C ENSP00000306361.3:n.1891+25A>C
ENST00000403106.7:c.1916A>C ENSP00000385981.3:p.Lys639Thr
ENST00000622532.1:c.841A>C ENSP00000478487.1:p.Ser281Arg
ENST00000651975.1:c.1891+25A>C ENSP00000498441.1:n.1891+25A>C
ENST00000651975.2:c.1891+25A>C ENSP00000498441.1:n.1891+25A>C