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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_000004.12:g.186284225C>T , CM000666.2:g.186284225C>T
GRCh38
NC_000004.11:g.187205379C>T , CM000666.1:g.187205379C>T
GRCh37
NC_000004.10:g.187442373C>T
NCBI36
NG_008051.1:g.23262C>T , LRG_583:g.23262C>T
Transcript Alleles
HGVS
Amino-acid change
ENST00000403665.7:c.1269C>T
MANE Select
ENSP00000384957.2:p.Asn423=
ENST00000264692.8:c.1107C>T
ENSP00000264692.5:p.Asn369=
ENST00000403665.6:c.1269C>T
ENSP00000384957.2:p.Asn423=
NM_000128.3:c.1269C>T , LRG_583t1:c.1269C>T
NP_000119.1:p.Asn423=
XM_005262821.2:c.1272C>T
XP_005262878.1:p.Asn424=
XM_005262822.2:c.1272C>T
XP_005262879.1:p.Asn424=
XM_005262823.2:c.1002C>T
XP_005262880.1:p.Asn334=
XM_005262824.1:c.1272C>T
XP_005262881.1:p.Asn424=
XM_006714137.1:c.1224C>T
XP_006714200.1:p.Asn408=
XR_938706.1:n.1677C>T
XR_938707.1:n.1677C>T
XM_005262821.4:c.1272C>T
XP_005262878.1:p.Asn424=
XM_005262822.4:c.1272C>T
XP_005262879.1:p.Asn424=
XM_005262823.4:c.1002C>T
XP_005262880.1:p.Asn334=
XM_006714137.3:c.1224C>T
XP_006714200.1:p.Asn408=
XR_001741172.2:n.1743C>T
NM_000128.4:c.1269C>T
MANE Select
NP_000119.1:p.Asn423=