Canonical Allele Identifier: CA2260738684

Gene: RPL27

Linked Data

• dbSNP Id: rs1597769136
• gnomAD v4: 17-42998534-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42998534T>G , CM000679.2:g.42998534T>G	GRCh38
NC_000017.10:g.41150551T>G , CM000679.1:g.41150551T>G	GRCh37
NC_000017.9:g.38404077T>G	NCBI36
NG_053099.1:g.5262T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253788.12:c.-3+63T>G MANE Select	ENSP00000253788.5:n.-3+63T>G
ENST00000589913.6:c.-217T>G	ENSP00000464813.1:n.-217T>G
ENST00000253788.9:c.-3+63T>G	ENSP00000253788.4:n.-3+63T>G
ENST00000587478.1:n.53+63T>G
ENST00000588830.1:c.-3+63T>G	ENSP00000468468.1:n.-3+63T>G
ENST00000589037.5:c.-3+119T>G	ENSP00000467587.1:n.-3+119T>G
ENST00000589913.5:c.-217T>G	ENSP00000464813.1:n.-217T>G
ENST00000593262.1:n.116T>G
NM_000988.3:c.-3+63T>G	NP_000979.1:n.-3+63T>G
NM_000988.5:c.-3+63T>G MANE Select	NP_000979.1:n.-3+63T>G
NM_001349921.1:c.-3+119T>G	NP_001336850.1:n.-3+119T>G
NM_001349922.1:c.-217T>G	NP_001336851.1:n.-217T>G
NR_146327.1:n.81+63T>G
NM_001349921.2:c.-3+119T>G	NP_001336850.1:n.-3+119T>G
NM_001349922.2:c.-217T>G	NP_001336851.1:n.-217T>G
NR_146327.2:n.53+63T>G