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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_000007.14:g.83981350T>G , CM000669.2:g.83981350T>G
GRCh38
NC_000007.13:g.83610666T>G , CM000669.1:g.83610666T>G
GRCh37
NC_000007.12:g.83448602T>G
NCBI36
NG_011489.1:g.218552A>C
Transcript Alleles
HGVS
Amino-acid change
ENST00000265362.9:c.1623A>C
MANE Select
ENSP00000265362.3:p.Ala541=
ENST00000265362.8:c.1623A>C
ENSP00000265362.3:p.Ala541=
ENST00000436949.5:c.1623A>C
ENSP00000415260.1:p.Ala541=
NM_006080.2:c.1623A>C
NP_006071.1:p.Ala541=
XM_005250110.2:c.1623A>C
XP_005250167.1:p.Ala541=
XM_005250111.3:c.1623A>C
XP_005250168.1:p.Ala541=
XM_006715839.2:c.1623A>C
XP_006715902.1:p.Ala541=
XM_011515734.1:c.1623A>C
XP_011514036.1:p.Ala541=
XM_011515735.1:c.1623A>C
XP_011514037.1:p.Ala541=
XM_005250110.3:c.1623A>C
XP_005250167.1:p.Ala541=
XM_005250111.4:c.1623A>C
XP_005250168.1:p.Ala541=
XM_006715839.3:c.1623A>C
XP_006715902.1:p.Ala541=
XM_011515734.3:c.1623A>C
XP_011514036.1:p.Ala541=
XM_017011673.1:c.1623A>C
XP_016867162.1:p.Ala541=
XM_024446633.1:c.1623A>C
XP_024302401.1:p.Ala541=
NM_006080.3:c.1623A>C
MANE Select
NP_006071.1:p.Ala541=