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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_000018.10:g.26855493G>T , CM000680.2:g.26855493G>T
GRCh38
NC_000018.9:g.24435457G>T , CM000680.1:g.24435457G>T
GRCh37
NC_000018.8:g.22689455G>T
NCBI36
NG_029560.1:g.15260C>A
Transcript Alleles
HGVS
Amino-acid change
ENST00000383168.9:c.*718C>A
MANE Select
ENSP00000372654.4:n.*718C>A
ENST00000672188.1:c.*718C>A
ENSP00000500720.1:n.*718C>A
ENST00000672981.2:c.*631C>A
ENSP00000500598.2:n.*631C>A
ENST00000383168.8:c.*718C>A
ENSP00000372654.4:n.*718C>A
NM_001650.4:c.*718C>A
NP_001641.1:n.*718C>A
NM_004028.3:c.*718C>A
NP_004019.1:n.*718C>A
XM_011525942.1:c.*718C>A
XP_011524244.1:n.*718C>A
NM_001317384.2:c.*631C>A
NP_001304313.1:n.*631C>A
NM_001317387.2:c.*718C>A
NP_001304316.1:n.*718C>A
NM_001364286.1:c.*718C>A
NP_001351215.1:n.*718C>A
NM_001364287.1:c.*631C>A
NP_001351216.1:n.*631C>A
NM_001364289.1:c.*631C>A
NP_001351218.1:n.*631C>A
NM_001650.6:c.*718C>A
NP_001641.1:n.*718C>A
NM_004028.4:c.*718C>A
NP_004019.1:n.*718C>A
XM_011525942.3:c.*718C>A
XP_011524244.1:n.*718C>A
NM_001650.7:c.*718C>A
MANE Select
NP_001641.1:n.*718C>A
NM_001317384.3:c.*631C>A
NP_001304313.1:n.*631C>A
NM_001317387.3:c.*718C>A
NP_001304316.1:n.*718C>A
NM_001364289.2:c.*631C>A
NP_001351218.1:n.*631C>A
NM_004028.5:c.*718C>A
NP_004019.1:n.*718C>A