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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_000010.11:g.124397987A>G , CM000672.2:g.124397987A>G
GRCh38
NC_000010.10:g.126086556A>G , CM000672.1:g.126086556A>G
GRCh37
NC_000010.9:g.126076546A>G
NCBI36
NG_008861.1:g.25964T>C , LRG_685:g.25964T>C
Transcript Alleles
HGVS
Amino-acid change
ENST00000368845.6:c.1275T>C
MANE Select
ENSP00000357838.5:p.Leu425=
ENST00000368845.5:c.1275T>C
ENSP00000357838.5:p.Leu425=
ENST00000539214.5:c.861T>C
ENSP00000439042.1:p.Leu287=
NM_000274.3:c.1275T>C , LRG_685t1:c.1275T>C
NP_000265.1:p.Leu425=
NM_001171814.1:c.861T>C
NP_001165285.1:p.Leu287=
XM_006717871.2:c.1275T>C
XP_006717934.1:p.Leu425=
XM_011539833.1:c.1275T>C
XP_011538135.1:p.Leu425=
XM_011539834.1:c.1275T>C
XP_011538136.1:p.Leu425=
NM_001322965.1:c.1275T>C
NP_001309894.1:p.Leu425=
NM_001322966.1:c.1275T>C
NP_001309895.1:p.Leu425=
NM_001322967.1:c.1275T>C
NP_001309896.1:p.Leu425=
NM_001322968.1:c.1275T>C
NP_001309897.1:p.Leu425=
NM_001322969.1:c.1275T>C
NP_001309898.1:p.Leu425=
NM_001322970.1:c.1275T>C
NP_001309899.1:p.Leu425=
NM_001322971.1:c.954T>C
NP_001309900.1:p.Leu318=
NM_001322974.1:c.675T>C
NP_001309903.1:p.Leu225=
XM_017016279.1:c.675T>C
XP_016871768.1:p.Leu225=
NM_000274.4:c.1275T>C
MANE Select
NP_000265.1:p.Leu425=
NM_001322965.2:c.1275T>C
NP_001309894.1:p.Leu425=
NM_001322966.2:c.1275T>C
NP_001309895.1:p.Leu425=
NM_001322967.2:c.1275T>C
NP_001309896.1:p.Leu425=
NM_001322968.2:c.1275T>C
NP_001309897.1:p.Leu425=
NM_001322969.2:c.1275T>C
NP_001309898.1:p.Leu425=
NM_001322970.2:c.1275T>C
NP_001309899.1:p.Leu425=
NM_001322971.2:c.954T>C
NP_001309900.1:p.Leu318=
NM_001322974.2:c.675T>C
NP_001309903.1:p.Leu225=
NM_001171814.2:c.861T>C
NP_001165285.1:p.Leu287=