Canonical Allele Identifier: CA12683766
Gene: STEAP1B HGNC NCBI

Linked Data

dbSNP Id: rs17364464
gnomAD v2: 7-22514053-A-G
gnomAD v3: 7-22474434-A-G
gnomAD v4: 7-22474434-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.22474434A>G , CM000669.2:g.22474434A>G GRCh38
NC_000007.13:g.22514053A>G , CM000669.1:g.22514053A>G GRCh37
NC_000007.12:g.22480578A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000678116.1:c.762+18131T>C MANE Select ENSP00000503251.1:n.762+18131T>C
ENST00000404369.8:c.762+18131T>C ENSP00000384370.4:n.762+18131T>C
ENST00000406890.6:c.705+18131T>C ENSP00000385239.2:n.705+18131T>C
NM_001164460.1:c.762+18131T>C NP_001157932.1:n.762+18131T>C
NM_207342.2:c.705+18131T>C NP_997225.1:n.705+18131T>C
NM_001164460.2:c.762+18131T>C NP_001157932.1:n.762+18131T>C
NM_001382447.1:c.762+18131T>C MANE Select NP_001369376.1:n.762+18131T>C
NM_207342.3:c.705+18131T>C NP_997225.1:n.705+18131T>C