Canonical Allele Identifier: CA8983802
Gene: TNFRSF11A HGNC NCBI
COSMIC:
MyVariant.info:
Revel Score:
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.62360008C>T , CM000680.2:g.62360008C>T GRCh38
NC_000018.9:g.60027241C>T , CM000680.1:g.60027241C>T GRCh37
NC_000018.8:g.58178221C>T NCBI36
NG_008098.1:g.39694C>T , LRG_194:g.39694C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000586569.3:c.575C>T MANE Select ENSP00000465500.1:p.Ala192Val
ENST00000639222.1:c.575C>T ENSP00000492422.1:p.Ala192Val
ENST00000269485.11:c.575C>T ENSP00000269485.7:p.Ala192Val
ENST00000586569.2:c.575C>T ENSP00000465500.1:p.Ala192Val
ENST00000587697.1:n.493C>T
ENST00000616710.4:c.575C>T ENSP00000479567.1:p.Ala192Val
ENST00000617039.4:c.575C>T ENSP00000482466.1:p.Ala192Val
NM_001270949.1:c.575C>T NP_001257878.1:p.Ala192Val
NM_001270950.1:c.575C>T NP_001257879.1:p.Ala192Val
NM_001270951.1:c.575C>T NP_001257880.1:p.Ala192Val
NM_001278268.1:c.533C>T NP_001265197.1:p.Ala178Val
NM_003839.3:c.575C>T NP_003830.1:p.Ala192Val
XM_011526244.1:c.590C>T XP_011524546.1:p.Ala197Val
XM_011526245.1:c.467C>T XP_011524547.1:p.Ala156Val
XR_935263.1:n.605C>T
XM_011526244.2:c.590C>T XP_011524546.1:p.Ala197Val
XM_011526245.2:c.467C>T XP_011524547.1:p.Ala156Val
XM_017026064.1:c.467C>T XP_016881553.1:p.Ala156Val
XM_017026065.1:c.425C>T XP_016881554.1:p.Ala142Val
XM_017026066.1:c.365C>T XP_016881555.1:p.Ala122Val
NM_003839.4:c.575C>T MANE Select NP_003830.1:p.Ala192Val
NM_001270951.2:c.575C>T NP_001257880.1:p.Ala192Val
NM_001278268.2:c.533C>T NP_001265197.1:p.Ala178Val
NM_001270949.2:c.575C>T NP_001257878.1:p.Ala192Val
NM_001270950.2:c.575C>T NP_001257879.1:p.Ala192Val