Canonical Allele Identifier: CA11503620
Gene: RYBP HGNC NCBI

Linked Data

dbSNP Id: rs12956
gnomAD v2: 3-72424471-A-G
gnomAD v3: 3-72375320-A-G
gnomAD v4: 3-72375320-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.72375320A>G , CM000665.2:g.72375320A>G GRCh38
NC_000003.11:g.72424471A>G , CM000665.1:g.72424471A>G GRCh37
NC_000003.10:g.72507161A>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000477973.5:c.3720T>C
ENST00000477973.4:c.3722T>C ENSP00000419494.3:n.3722T>C
ENST00000676660.1:n.4797T>C
ENST00000677329.1:n.3722T>C
ENST00000477973.2:c.4017T>C