Canonical Allele Identifier: CA1664459

Gene: RPS27A

Linked Data

• dbSNP Id: rs755701479
• ExAC: 2:55461358 G / A
• gnomAD v2: 2-55461358-G-A
• gnomAD v4: 2-55234222-G-A
• MyVariant Identifiers: chr2:g.55461358G>A (hg19) ; chr2:g.55234222G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.55234222G>A , CM000664.2:g.55234222G>A	GRCh38
NC_000002.11:g.55461358G>A , CM000664.1:g.55461358G>A	GRCh37
NC_000002.10:g.55314862G>A	NCBI36
NG_017017.1:g.7294G>A
NG_033063.1:g.3342C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272317.11:c.189+18G>A MANE Select	ENSP00000272317.6:n.189+18G>A
ENST00000272317.10:c.189+18G>A	ENSP00000272317.6:n.189+18G>A
ENST00000402285.7:c.189+18G>A	ENSP00000383981.3:n.189+18G>A
ENST00000404735.1:c.189+18G>A	ENSP00000385659.1:n.189+18G>A
ENST00000449323.5:c.189+18G>A	ENSP00000408482.1:n.189+18G>A
ENST00000468810.1:n.165G>A
ENST00000478196.6:n.226+18G>A
ENST00000495843.1:n.237G>A
NM_001135592.2:c.189+18G>A	NP_001129064.1:n.189+18G>A
NM_001177413.1:c.189+18G>A	NP_001170884.1:n.189+18G>A
NM_002954.5:c.189+18G>A	NP_002945.1:n.189+18G>A
NM_002954.6:c.189+18G>A MANE Select	NP_002945.1:n.189+18G>A