Canonical Allele Identifier: CA11421461
Gene: TF HGNC NCBI
SRPRB HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.133789620A>T , CM000665.2:g.133789620A>T GRCh38
NC_000003.11:g.133508464A>T , CM000665.1:g.133508464A>T GRCh37
NC_000003.10:g.134991154A>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000402696.9:c.*11000A>T (TF) MANE Select ENSP00000385834.3:n.*11000A>T
ENST00000466490.7:c.-174+5476A>T (SRPRB) ENSP00000418401.1:n.-174+5476A>T
ENST00000466490.6:c.-174+5476A>T (SRPRB) ENSP00000418401.1:n.-174+5476A>T
NM_021203.3:c.-174+5476A>T (SRPRB) NP_067026.3:n.-174+5476A>T
XR_924512.1:n.748-1474T>A
XR_924513.1:n.748-5397T>A
XR_924512.3:n.537-1474T>A
XR_924513.3:n.537-5397T>A
NM_001063.4:c.*11000A>T (TF) MANE Select NP_001054.2:n.*11000A>T
NM_001354703.2:c.*11000A>T (TF) NP_001341632.2:n.*11000A>T
NM_001354704.2:c.*11000A>T (TF) NP_001341633.2:n.*11000A>T
NM_021203.4:c.-174+5476A>T (SRPRB) NP_067026.3:n.-174+5476A>T
Search 100 bp 5'
Search 100 bp 3'