Canonical Allele Identifier: CA1867652362
Community Standard Title: NM_015051.3(ERP44):c.286+6014T=
Gene: ERP44 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.100046403A= , CM000671.2:g.100046403A= GRCh38
NC_000009.11:g.102808685A= , CM000671.1:g.102808685A= GRCh37
NC_000009.10:g.101848506A= NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_015051.3:c.286+6014T= MANE Select NP_055866.1:n.286+6014T=
ENST00000262455.7:c.286+6014T= MANE Select ENSP00000262455.6:n.286+6014T=
NM_015051.2:c.286+6014T= NP_055866.1:n.286+6014T=
ENST00000262455.6:c.286+6014T= ENSP00000262455.6:n.286+6014T=
ENST00000684842.1:c.286+6014T= ENSP00000509528.1:n.286+6014T=
ENST00000685319.1:n.220-24177T=
ENST00000685432.1:n.1597+6014T=
ENST00000686275.1:c.286+6014T= ENSP00000510307.1:n.286+6014T=
ENST00000687017.1:c.286+6014T= ENSP00000508446.1:n.286+6014T=
ENST00000687025.1:c.170+11417T= ENSP00000510130.1:n.170+11417T=
ENST00000687093.1:c.100+6014T= ENSP00000509315.1:n.100+6014T=
ENST00000688230.1:c.286+6014T= ENSP00000509300.1:n.286+6014T=
ENST00000689406.1:c.286+6014T= ENSP00000509116.1:n.286+6014T=
ENST00000690317.1:c.286+6014T= ENSP00000508466.1:n.286+6014T=
ENST00000690739.1:c.100+6014T= ENSP00000508834.1:n.100+6014T=
ENST00000691188.1:c.*30+6014T= ENSP00000509263.1:n.*30+6014T=
ENST00000691823.1:n.437+6014T=