Canonical Allele Identifier: CA10575194
Gene: RPS4Y2 HGNC NCBI

Linked Data

dbSNP Id: rs763483257
gnomAD v2: Y-22921888-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.20760002T>C , CM000686.2:g.20760002T>C GRCh38
NC_000024.9:g.22921888T>C , CM000686.1:g.22921888T>C GRCh37
NC_000024.8:g.21331276T>C NCBI36
NG_032924.1:g.8935T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000629237.2:c.216T>C MANE Select ENSP00000486252.1:p.Ile72=
ENST00000629237.1:c.216T>C ENSP00000486252.1:p.Ile72=
NM_001039567.2:c.216T>C NP_001034656.1:p.Ile72=
XM_011531423.1:c.165T>C XP_011529725.1:p.Ile55=
NM_001039567.3:c.216T>C MANE Select NP_001034656.1:p.Ile72=