×
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_000023.11:g.108578365G>A , CM000685.2:g.108578365G>A
GRCh38
NC_000023.10:g.107821595G>A , CM000685.1:g.107821595G>A
GRCh37
NC_000023.9:g.107708251G>A
NCBI36
NG_011977.1:g.143442G>A
NG_011977.2:g.143442G>A
Transcript Alleles
HGVS
Amino-acid change
ENST00000328300.11:c.762G>A
MANE Select
ENSP00000331902.7:p.Glu254=
ENST00000361603.7:c.762G>A
ENSP00000354505.2:p.Glu254=
ENST00000328300.10:c.762G>A
ENSP00000331902.6:p.Glu254=
ENST00000361603.6:c.762G>A
ENSP00000354505.2:p.Glu254=
NM_000495.4:c.762G>A
NP_000486.1:p.Glu254=
NM_033380.2:c.762G>A
NP_203699.1:p.Glu254=
XM_005262070.2:c.762G>A
XP_005262127.1:p.Glu254=
XM_005262072.3:c.762G>A
XP_005262129.1:p.Glu254=
XM_006724616.2:c.762G>A
XP_006724679.1:p.Glu254=
XM_011530849.1:c.438G>A
XP_011529151.1:p.Glu146=
XM_011530850.1:c.762G>A
XP_011529152.1:p.Glu254=
XM_011530849.2:c.777G>A
XP_011529151.2:p.Glu259=
XM_017029259.2:c.777G>A
XP_016884748.1:p.Glu259=
XM_017029260.1:c.777G>A
XP_016884749.1:p.Glu259=
XM_017029261.1:c.777G>A
XP_016884750.1:p.Glu259=
XM_017029262.2:c.777G>A
XP_016884751.1:p.Glu259=
NM_000495.5:c.762G>A
NP_000486.1:p.Glu254=
NM_033380.3:c.762G>A
MANE Select
NP_203699.1:p.Glu254=