Canonical Allele Identifier: CA467124403

Linked Data

MyVariant Identifiers: chr9:g.127730589G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.124968310G>A , CM000671.2:g.124968310G>A GRCh38
NC_000009.11:g.127730589G>A , CM000671.1:g.127730589G>A GRCh37
NC_000009.10:g.126770410G>A NCBI36
NG_016620.1:g.180250C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000336505.11:c.1674+3060C>T (SCAI) MANE Select ENSP00000336756.6:n.1674+3060C>T
ENST00000336505.10:c.1674+3060C>T (SCAI) ENSP00000336756.5:n.1674+3060C>T
ENST00000373549.8:c.1743+3060C>T (SCAI) ENSP00000362650.4:n.1743+3060C>T
ENST00000411625.2:n.531C>T (FXNP2)
ENST00000467917.5:c.606+3060C>T (SCAI)
ENST00000477186.5:c.*119+3060C>T (SCAI) ENSP00000419576.1:n.*119+3060C>T
NM_001144877.2:c.1674+3060C>T (SCAI) NP_001138349.1:n.1674+3060C>T
NM_173690.4:c.1743+3060C>T (SCAI) NP_775961.2:n.1743+3060C>T
XR_929767.1:n.1945+3060C>T (SCAI)
NM_001144877.3:c.1674+3060C>T (SCAI) MANE Select NP_001138349.1:n.1674+3060C>T
NM_173690.5:c.1743+3060C>T (SCAI) NP_775961.2:n.1743+3060C>T