Canonical Allele Identifier: CA3115046
Community Standard Title: NM_021871.4(FGA):c.1717C>A (p.Arg573Ser)
Gene: FGA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.154585712G>T , CM000666.2:g.154585712G>T GRCh38
NC_000004.11:g.155506864G>T , CM000666.1:g.155506864G>T GRCh37
NC_000004.10:g.155726314G>T NCBI36
NG_008832.1:g.10034C>A , LRG_557:g.10034C>A

Transcript Alleles

HGVS Amino-acid Change
NM_021871.4:c.1717C>A MANE Select NP_068657.1:p.Arg573Ser
ENST00000403106.8:c.1717C>A MANE Select ENSP00000385981.3:p.Arg573Ser
NM_000508.3:c.1717C>A , LRG_557t1:c.1717C>A NP_000499.1:p.Arg573Ser
NM_000508.4:c.1717C>A NP_000499.1:p.Arg573Ser
NM_000508.5:c.1717C>A NP_000499.1:p.Arg573Ser
NM_021871.2:c.1717C>A , LRG_557t2:c.1717C>A NP_068657.1:p.Arg573Ser
NM_021871.3:c.1717C>A NP_068657.1:p.Arg573Ser
ENST00000302053.7:c.1717C>A ENSP00000306361.3:p.Arg573Ser
ENST00000403106.7:c.1717C>A ENSP00000385981.3:p.Arg573Ser
ENST00000622532.1:c.644-2C>A ENSP00000478487.1:n.644-2C>A
ENST00000651975.1:c.1717C>A ENSP00000498441.1:p.Arg573Ser
ENST00000651975.2:c.1717C>A ENSP00000498441.1:p.Arg573Ser