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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_000020.11:g.46725186G>C , CM000682.2:g.46725186G>C
GRCh38
NC_000020.10:g.45353825G>C , CM000682.1:g.45353825G>C
GRCh37
NC_000020.9:g.44787232G>C
NCBI36
NG_016284.1:g.20547G>C
Transcript Alleles
HGVS
Amino-acid change
ENST00000359271.4:c.150G>C
MANE Select
ENSP00000352216.2:p.Leu50=
ENST00000359271.3:c.150G>C
ENSP00000352216.2:p.Leu50=
ENST00000611837.1:n.302G>C
NM_030777.3:c.150G>C
NP_110404.1:p.Leu50=
XM_011529060.1:c.213G>C
XP_011527362.1:p.Leu71=
XM_011529061.1:c.159G>C
XP_011527363.1:p.Leu53=
XM_011529062.1:c.213G>C
XP_011527364.1:p.Leu71=
XM_011529063.1:c.213G>C
XP_011527365.1:p.Leu71=
XM_011529064.1:c.213G>C
XP_011527366.1:p.Leu71=
XM_011529065.1:c.213G>C
XP_011527367.1:p.Leu71=
XR_936641.1:n.349G>C
XM_011529060.2:c.213G>C
XP_011527362.1:p.Leu71=
XM_011529061.2:c.159G>C
XP_011527363.1:p.Leu53=
XM_011529062.2:c.213G>C
XP_011527364.1:p.Leu71=
XM_011529063.2:c.213G>C
XP_011527365.1:p.Leu71=
XM_011529064.2:c.213G>C
XP_011527366.1:p.Leu71=
XM_011529065.2:c.213G>C
XP_011527367.1:p.Leu71=
XM_017028087.2:c.150G>C
XP_016883576.1:p.Leu50=
XR_936641.2:n.336G>C
NM_030777.4:c.150G>C
MANE Select
NP_110404.1:p.Leu50=