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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_000002.12:g.102452230G>A , CM000664.2:g.102452230G>A
GRCh38
NC_000002.11:g.103068690G>A , CM000664.1:g.103068690G>A
GRCh37
NC_000002.10:g.102435122G>A
NCBI36
NG_011481.1:g.38437G>A
Transcript Alleles
HGVS
Amino-acid change
ENST00000687160.1:c.*49G>A
MANE Select
ENSP00000510345.1:n.*49G>A
ENST00000264260.6:c.*49G>A
ENSP00000264260.2:n.*49G>A
ENST00000409369.1:c.*49G>A
ENSP00000387201.1:n.*49G>A
NM_003853.3:c.*49G>A
NP_003844.1:n.*49G>A
XM_011512087.1:c.*49G>A
XP_011510389.1:n.*49G>A
XM_011512088.1:c.*49G>A
XP_011510390.1:n.*49G>A
XM_011512087.2:c.*49G>A
XP_011510389.1:n.*49G>A
XM_011512088.2:c.*49G>A
XP_011510390.1:n.*49G>A
XM_017005173.1:c.*49G>A
XP_016860662.1:n.*49G>A
XM_024453197.1:c.*49G>A
XP_024308965.1:n.*49G>A
XM_024453198.1:c.*49G>A
XP_024308966.1:n.*49G>A
XM_024453199.1:c.*49G>A
XP_024308967.1:n.*49G>A
XM_024453200.1:c.*49G>A
XP_024308968.1:n.*49G>A
XM_024453201.1:c.*49G>A
XP_024308969.1:n.*49G>A
NM_001393486.1:c.*49G>A
NP_001380415.1:n.*49G>A
NM_001393487.1:c.*49G>A
MANE Select
NP_001380416.1:n.*49G>A
NM_001393488.1:c.*49G>A
NP_001380417.1:n.*49G>A
NM_001393489.1:c.*49G>A
NP_001380418.1:n.*49G>A
NM_003853.4:c.*49G>A
NP_003844.1:n.*49G>A