Canonical Allele Identifier: CA426169965

Gene: RPS27A

Linked Data

• gnomAD v4: 2-55234195-T-C
• MyVariant Identifiers: chr2:g.55461331T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.55234195T>C , CM000664.2:g.55234195T>C	GRCh38
NC_000002.11:g.55461331T>C , CM000664.1:g.55461331T>C	GRCh37
NC_000002.10:g.55314835T>C	NCBI36
NG_017017.1:g.7267T>C
NG_033063.1:g.3369A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272317.11:c.180T>C MANE Select	ENSP00000272317.6:p.Asn60=
ENST00000272317.10:c.180T>C	ENSP00000272317.6:p.Asn60=
ENST00000402285.7:c.180T>C	ENSP00000383981.3:p.Asn60=
ENST00000404735.1:c.180T>C	ENSP00000385659.1:p.Asn60=
ENST00000449323.5:c.180T>C	ENSP00000408482.1:p.Asn60=
ENST00000468810.1:n.138T>C
ENST00000478196.6:n.217T>C
ENST00000495843.1:n.210T>C
NM_001135592.2:c.180T>C	NP_001129064.1:p.Asn60=
NM_001177413.1:c.180T>C	NP_001170884.1:p.Asn60=
NM_002954.5:c.180T>C	NP_002945.1:p.Asn60=
NM_002954.6:c.180T>C MANE Select	NP_002945.1:p.Asn60=