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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_000017.11:g.745903G= , CM000679.2:g.745903G=
GRCh38
NC_000017.10:g.649143G= , CM000679.1:g.649143G=
GRCh37
NC_000017.9:g.595893G=
NCBI36
NG_046938.1:g.11970C=
Transcript Alleles
HGVS
Amino-acid change
ENST00000319004.6:c.2140C=
MANE Select
ENSP00000321706.5:p.Leu714=
ENST00000319004.5:c.2140C=
ENSP00000321706.5:p.Leu714=
ENST00000576778.1:c.2107C=
ENSP00000459565.1:p.Leu703=
NM_015721.2:c.2140C=
NP_056536.2:p.Leu714=
XM_005256667.3:c.2152C=
XP_005256724.1:p.Leu718=
XM_005256668.3:c.2152C=
XP_005256725.1:p.Leu718=
XM_005256670.3:c.2107C=
XP_005256727.1:p.Leu703=
XM_011523910.1:c.2152C=
XP_011522212.1:p.Leu718=
XM_011523911.1:c.2152C=
XP_011522213.1:p.Leu718=
XM_011523912.1:c.2107C=
XP_011522214.1:p.Leu703=
XM_011523913.1:c.2107C=
XP_011522215.1:p.Leu703=
XM_005256667.4:c.2152C=
XP_005256724.1:p.Leu718=
XM_005256670.5:c.2107C=
XP_005256727.1:p.Leu703=
XM_011523910.2:c.2152C=
XP_011522212.1:p.Leu718=
XM_011523911.2:c.2152C=
XP_011522213.1:p.Leu718=
XM_011523912.2:c.2107C=
XP_011522214.1:p.Leu703=
XM_011523913.2:c.2107C=
XP_011522215.1:p.Leu703=
XM_017024709.1:c.2152C=
XP_016880198.1:p.Leu718=
NM_015721.3:c.2140C=
MANE Select
NP_056536.2:p.Leu714=