×
WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled: We are investigating the periodic unresponsiveness in the Registry. Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries. This temporarily affects the API and the UI.
Genomic Alleles
HGVS
Genome Assembly
NC_000016.10:g.74636563A>T , CM000678.2:g.74636563A>T
GRCh38
NC_000016.9:g.74670461A>T , CM000678.1:g.74670461A>T
GRCh37
NC_000016.8:g.73227962A>T
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000361070.9:c.1209T>A
MANE Select
ENSP00000354361.4:p.Leu403=
ENST00000361070.8:c.1209T>A
ENSP00000354361.4:p.Leu403=
ENST00000571750.5:c.1209T>A
ENSP00000460049.1:p.Leu403=
NM_018124.3:c.1209T>A
NP_060594.3:p.Leu403=
XM_005256021.3:c.1209T>A
XP_005256078.1:p.Leu403=
XM_005256022.3:c.1209T>A
XP_005256079.1:p.Leu403=
XM_006721228.2:c.1209T>A
XP_006721291.1:p.Leu403=
XM_011523191.1:c.1209T>A
XP_011521493.1:p.Leu403=
XM_005256021.4:c.1209T>A
XP_005256078.1:p.Leu403=
XM_005256022.4:c.1209T>A
XP_005256079.1:p.Leu403=
XM_006721228.3:c.1209T>A
XP_006721291.1:p.Leu403=
XM_011523191.3:c.1209T>A
XP_011521493.1:p.Leu403=
XM_017023391.1:c.1209T>A
XP_016878880.1:p.Leu403=
XM_017023392.1:c.1209T>A
XP_016878881.1:p.Leu403=
NM_018124.4:c.1209T>A
MANE Select
NP_060594.3:p.Leu403=
NM_001370534.1:c.1209T>A
NP_001357463.1:p.Leu403=
NM_001370535.1:c.1209T>A
NP_001357464.1:p.Leu403=
NM_001370536.1:c.1209T>A
NP_001357465.1:p.Leu403=
NM_001370537.1:c.375T>A
NP_001357466.1:p.Leu125=
NM_001370539.1:c.375T>A
NP_001357468.1:p.Leu125=
NM_001370540.1:c.375T>A
NP_001357469.1:p.Leu125=
NM_001370542.1:c.375T>A
NP_001357471.1:p.Leu125=
NM_001370543.1:c.375T>A
NP_001357472.1:p.Leu125=