Canonical Allele Identifier: CA485027637

Linked Data

MyVariant Identifiers: chr13:g.113783911G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.113129597G>A , CM000675.2:g.113129597G>A GRCh38
NC_000013.10:g.113783911G>A , CM000675.1:g.113783911G>A GRCh37
NC_000013.9:g.112831912G>A NCBI36
NG_009258.1:g.11799G>A , LRG_548:g.11799G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000375559.8:c.216G>A (F10) MANE Select ENSP00000364709.3:p.Glu72=
ENST00000375551.7:c.216G>A (F10) ENSP00000364701.3:p.Glu72=
ENST00000375559.7:c.216G>A (F10) ENSP00000364709.3:p.Glu72=
ENST00000409306.5:c.216G>A (F10) ENSP00000387092.1:p.Glu72=
ENST00000410083.6:c.216G>A (F10) ENSP00000386320.2:p.Glu72=
ENST00000477269.5:n.253G>A (F10)
ENST00000483537.1:n.236G>A (F10)
NM_000504.3:c.216G>A , LRG_548t1:c.216G>A (F10) NP_000495.1:p.Glu72=
NM_001312674.1:c.216G>A (F10) NP_001299603.1:p.Glu72=
NM_001312675.1:c.216G>A (F10) NP_001299604.1:p.Glu72=
NR_126424.1:n.41+409C>T (F10-AS1)
NM_000504.4:c.216G>A (F10) MANE Select NP_000495.1:p.Glu72=
NM_001312674.2:c.216G>A (F10) NP_001299603.1:p.Glu72=
NM_001312675.2:c.216G>A (F10) NP_001299604.1:p.Glu72=