Canonical Allele Identifier: CA1123815

Gene: RPS27

Linked Data

• dbSNP Id: rs768803788
• ExAC: 1:153963313 C / T
• gnomAD v2: 1-153963313-C-T
• gnomAD v3: 1-153990837-C-T
• gnomAD v4: 1-153990837-C-T
• MyVariant Identifiers: chr1:g.153963313C>T (hg19) ; chr1:g.153990837C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.153990837C>T , CM000663.2:g.153990837C>T	GRCh38
NC_000001.10:g.153963313C>T , CM000663.1:g.153963313C>T	GRCh37
NC_000001.9:g.152229937C>T	NCBI36
NG_053102.2:g.5083C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000643794.1:c.6+35C>T	ENSP00000495765.1:n.6+35C>T
ENST00000651669.1:c.6+35C>T MANE Select	ENSP00000499044.1:n.6+35C>T
ENST00000368567.4:c.6+35C>T	ENSP00000357555.4:n.6+35C>T
ENST00000392558.4:c.6+35C>T	ENSP00000376341.4:n.6+35C>T
ENST00000477151.1:n.40+35C>T
ENST00000493224.5:n.75C>T
NM_001030.4:c.6+35C>T	NP_001021.1:n.6+35C>T
NM_001030.6:c.6+35C>T MANE Select	NP_001021.1:n.6+35C>T
NM_001349946.1:c.-212+35C>T	NP_001336875.1:n.-212+35C>T
NM_001349947.1:c.-288C>T	NP_001336876.1:n.-288C>T
NM_001349946.2:c.-212+35C>T	NP_001336875.1:n.-212+35C>T
NM_001349947.2:c.-288C>T	NP_001336876.1:n.-288C>T