Canonical Allele Identifier: CA899124297

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000402696.9:c.*11000A>G (TF) MANE Select ENSP00000385834.3:n.*11000A>G
ENST00000466490.7:c.-174+5476A>G (SRPRB) ENSP00000418401.1:n.-174+5476A>G
ENST00000466490.6:c.-174+5476A>G (SRPRB) ENSP00000418401.1:n.-174+5476A>G
NM_021203.3:c.-174+5476A>G (SRPRB) NP_067026.3:n.-174+5476A>G
XR_924512.1:n.748-1474T>C
XR_924513.1:n.748-5397T>C
XR_924512.3:n.537-1474T>C
XR_924513.3:n.537-5397T>C
NM_001063.4:c.*11000A>G (TF) MANE Select NP_001054.2:n.*11000A>G
NM_001354703.2:c.*11000A>G (TF) NP_001341632.2:n.*11000A>G
NM_001354704.2:c.*11000A>G (TF) NP_001341633.2:n.*11000A>G
NM_021203.4:c.-174+5476A>G (SRPRB) NP_067026.3:n.-174+5476A>G