Canonical Allele Identifier: CA388787413
Community Standard Title: NM_000504.4(F10):c.80G>A (p.Arg27His)

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.113129461G>A , CM000675.2:g.113129461G>A GRCh38
NC_000013.10:g.113783775G>A , CM000675.1:g.113783775G>A GRCh37
NC_000013.9:g.112831776G>A NCBI36
NG_009258.1:g.11663G>A , LRG_548:g.11663G>A

Transcript Alleles

HGVS Amino-acid Change
NM_000504.4:c.80G>A (F10) MANE Select NP_000495.1:p.Arg27His
ENST00000375559.8:c.80G>A (F10) MANE Select ENSP00000364709.3:p.Arg27His
NM_000504.3:c.80G>A , LRG_548t1:c.80G>A (F10) NP_000495.1:p.Arg27His
NM_001312674.1:c.80G>A (F10) NP_001299603.1:p.Arg27His
NM_001312674.2:c.80G>A (F10) NP_001299603.1:p.Arg27His
NM_001312675.1:c.80G>A (F10) NP_001299604.1:p.Arg27His
NM_001312675.2:c.80G>A (F10) NP_001299604.1:p.Arg27His
NR_126424.1:n.41+545C>T (F10-AS1)
ENST00000375551.7:c.80G>A (F10) ENSP00000364701.3:p.Arg27His
ENST00000375559.7:c.80G>A (F10) ENSP00000364709.3:p.Arg27His
ENST00000409306.5:c.80G>A (F10) ENSP00000387092.1:p.Arg27His
ENST00000410083.6:c.80G>A (F10) ENSP00000386320.2:p.Arg27His
ENST00000477269.5:n.117G>A (F10)
ENST00000483537.1:n.100G>A (F10)