×
UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored Protein allele requests are no longer disabled. Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.132349406G>A , CM000671.2:g.132349406G>A
GRCh38
NC_000009.11:g.135224793G>A , CM000671.1:g.135224793G>A
GRCh37
NC_000009.10:g.134214614G>A
NCBI36
NG_007946.1:g.10580C>T , LRG_268:g.10580C>T
Transcript Alleles
HGVS
Amino-acid change
ENST00000224140.6:c.23C>T
MANE Select
ENSP00000224140.5:p.Thr8Met
ENST00000224140.5:c.23C>T
ENSP00000224140.5:p.Thr8Met
NM_015046.5:c.23C>T , LRG_268t1:c.23C>T
NP_055861.3:p.Thr8Met
XM_005272171.1:c.23C>T
XP_005272228.1:p.Thr8Met
XM_005272172.1:c.23C>T
XP_005272229.1:p.Thr8Met
XM_005272173.1:c.23C>T
XP_005272230.1:p.Thr8Met
XM_011518404.1:c.23C>T
XP_011516706.1:p.Thr8Met
XM_011518405.1:c.23C>T
XP_011516707.1:p.Thr8Met
XM_011518406.1:c.23C>T
XP_011516708.1:p.Thr8Met
XM_011518407.1:c.23C>T
XP_011516709.1:p.Thr8Met
XM_011518408.1:c.23C>T
XP_011516710.1:p.Thr8Met
XR_929739.1:n.207C>T
NM_001351527.1:c.23C>T
NP_001338456.1:p.Thr8Met
NM_001351528.1:c.23C>T
NP_001338457.1:p.Thr8Met
NM_015046.6:c.23C>T
NP_055861.3:p.Thr8Met
XM_005272172.3:c.23C>T
XP_005272229.1:p.Thr8Met
XM_005272173.3:c.23C>T
XP_005272230.1:p.Thr8Met
XM_011518404.3:c.23C>T
XP_011516706.1:p.Thr8Met
XM_011518405.3:c.23C>T
XP_011516707.1:p.Thr8Met
XM_011518406.2:c.23C>T
XP_011516708.1:p.Thr8Met
XM_011518408.3:c.23C>T
XP_011516710.1:p.Thr8Met
XR_001746251.1:n.207C>T
XR_929739.2:n.207C>T
NM_015046.7:c.23C>T
MANE Select
NP_055861.3:p.Thr8Met
NM_001351528.2:c.23C>T
NP_001338457.1:p.Thr8Met
NM_001351527.2:c.23C>T
NP_001338456.1:p.Thr8Met