Canonical Allele Identifier: CA1516594
Community Standard Title: NM_001011.4(RPS7):c.148-6C>T
Gene: RPS7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.3576481C>T , CM000664.2:g.3576481C>T GRCh38
NC_000002.11:g.3624071C>T , CM000664.1:g.3624071C>T GRCh37
NC_000002.10:g.3601946C>T NCBI36
NG_011744.1:g.6219C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001011.4:c.148-6C>T MANE Select NP_001002.1:n.148-6C>T
ENST00000645674.2:c.148-6C>T MANE Select ENSP00000496757.1:n.148-6C>T
NM_001011.3:c.148-6C>T NP_001002.1:n.148-6C>T
ENST00000304921.9:c.148-6C>T ENSP00000339095.4:n.148-6C>T
ENST00000403564.5:c.148-6C>T ENSP00000385018.1:n.148-6C>T
ENST00000406376.1:c.148-6C>T ENSP00000385286.1:n.148-6C>T
ENST00000407445.7:c.148-6C>T ENSP00000385729.3:n.148-6C>T
ENST00000407445.8:c.148-6C>T ENSP00000385729.3:n.148-6C>T
ENST00000462576.5:n.433-6C>T
ENST00000479123.1:n.125-6C>T
ENST00000481006.1:n.992C>T
ENST00000491937.5:n.413-6C>T
ENST00000491937.6:n.194-6C>T
ENST00000645540.1:n.44-129C>T
ENST00000646909.1:c.148-6C>T ENSP00000496654.1:n.148-6C>T
ENST00000647131.1:c.148-78C>T ENSP00000494995.1:n.148-78C>T