Canonical Allele Identifier: CA1878666382

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.124968331T= , CM000671.2:g.124968331T= GRCh38
NC_000009.11:g.127730610T= , CM000671.1:g.127730610T= GRCh37
NC_000009.10:g.126770431T= NCBI36
NG_016620.1:g.180229A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000336505.11:c.1674+3039A= (SCAI) MANE Select ENSP00000336756.6:n.1674+3039A=
ENST00000336505.10:c.1674+3039A= (SCAI) ENSP00000336756.5:n.1674+3039A=
ENST00000373549.8:c.1743+3039A= (SCAI) ENSP00000362650.4:n.1743+3039A=
ENST00000411625.2:n.510A= (FXNP2)
ENST00000467917.5:c.606+3039A= (SCAI)
ENST00000477186.5:c.*119+3039A= (SCAI) ENSP00000419576.1:n.*119+3039A=
NM_001144877.2:c.1674+3039A= (SCAI) NP_001138349.1:n.1674+3039A=
NM_173690.4:c.1743+3039A= (SCAI) NP_775961.2:n.1743+3039A=
XR_929767.1:n.1945+3039A= (SCAI)
NM_001144877.3:c.1674+3039A= (SCAI) MANE Select NP_001138349.1:n.1674+3039A=
NM_173690.5:c.1743+3039A= (SCAI) NP_775961.2:n.1743+3039A=