Canonical Allele Identifier: CA467124891

Linked Data

MyVariant Identifiers: chr9:g.127730689A>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.124968410A>T , CM000671.2:g.124968410A>T GRCh38
NC_000009.11:g.127730689A>T , CM000671.1:g.127730689A>T GRCh37
NC_000009.10:g.126770510A>T NCBI36
NG_016620.1:g.180150T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000336505.11:c.1674+2960T>A (SCAI) MANE Select ENSP00000336756.6:n.1674+2960T>A
ENST00000336505.10:c.1674+2960T>A (SCAI) ENSP00000336756.5:n.1674+2960T>A
ENST00000373549.8:c.1743+2960T>A (SCAI) ENSP00000362650.4:n.1743+2960T>A
ENST00000411625.2:n.431T>A (FXNP2)
ENST00000467917.5:c.606+2960T>A (SCAI)
ENST00000477186.5:c.*119+2960T>A (SCAI) ENSP00000419576.1:n.*119+2960T>A
NM_001144877.2:c.1674+2960T>A (SCAI) NP_001138349.1:n.1674+2960T>A
NM_173690.4:c.1743+2960T>A (SCAI) NP_775961.2:n.1743+2960T>A
XR_929767.1:n.1945+2960T>A (SCAI)
NM_001144877.3:c.1674+2960T>A (SCAI) MANE Select NP_001138349.1:n.1674+2960T>A
NM_173690.5:c.1743+2960T>A (SCAI) NP_775961.2:n.1743+2960T>A