Canonical Allele Identifier: CA532802980

Gene: RPS27A

Linked Data

• dbSNP Id: rs1394018284
• gnomAD v2: 2-55461392-A-T
• gnomAD v3: 2-55234256-A-T
• gnomAD v4: 2-55234256-A-T
• MyVariant Identifiers: chr2:g.55461392A>T (hg19) ; chr2:g.55234256A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.55234256A>T , CM000664.2:g.55234256A>T	GRCh38
NC_000002.11:g.55461392A>T , CM000664.1:g.55461392A>T	GRCh37
NC_000002.10:g.55314896A>T	NCBI36
NG_017017.1:g.7328A>T
NG_033063.1:g.3308T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272317.11:c.189+52A>T MANE Select	ENSP00000272317.6:n.189+52A>T
ENST00000272317.10:c.189+52A>T	ENSP00000272317.6:n.189+52A>T
ENST00000402285.7:c.189+52A>T	ENSP00000383981.3:n.189+52A>T
ENST00000404735.1:c.189+52A>T	ENSP00000385659.1:n.189+52A>T
ENST00000449323.5:c.189+52A>T	ENSP00000408482.1:n.189+52A>T
ENST00000468810.1:n.199A>T
ENST00000478196.6:n.226+52A>T
ENST00000495843.1:n.271A>T
NM_001135592.2:c.189+52A>T	NP_001129064.1:n.189+52A>T
NM_001177413.1:c.189+52A>T	NP_001170884.1:n.189+52A>T
NM_002954.5:c.189+52A>T	NP_002945.1:n.189+52A>T
NM_002954.6:c.189+52A>T MANE Select	NP_002945.1:n.189+52A>T