×
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_000004.12:g.186285688C= , CM000666.2:g.186285688C=
GRCh38
NC_000004.11:g.187206842C= , CM000666.1:g.187206842C=
GRCh37
NC_000004.10:g.187443836C=
NCBI36
NG_008051.1:g.24725C= , LRG_583:g.24725C=
Transcript Alleles
HGVS
Amino-acid change
ENST00000403665.7:c.1355C=
MANE Select
ENSP00000384957.2:p.Ser452=
ENST00000264691.4:c.51C=
ENST00000264692.8:c.1193C=
ENSP00000264692.5:p.Ser398=
ENST00000403665.6:c.1355C=
ENSP00000384957.2:p.Ser452=
NM_000128.3:c.1355C= , LRG_583t1:c.1355C=
NP_000119.1:p.Ser452=
XM_005262821.2:c.1358C=
XP_005262878.1:p.Ser453=
XM_005262822.2:c.1358C=
XP_005262879.1:p.Ser453=
XM_005262823.2:c.1088C=
XP_005262880.1:p.Ser363=
XM_005262824.1:c.1358C=
XP_005262881.1:p.Ser453=
XM_006714137.1:c.1310C=
XP_006714200.1:p.Ser437=
XR_938706.1:n.1763C=
XR_938707.1:n.1763C=
XM_005262821.4:c.1358C=
XP_005262878.1:p.Ser453=
XM_005262822.4:c.1358C=
XP_005262879.1:p.Ser453=
XM_005262823.4:c.1088C=
XP_005262880.1:p.Ser363=
XM_006714137.3:c.1310C=
XP_006714200.1:p.Ser437=
XR_001741172.2:n.1829C=
NM_000128.4:c.1355C=
MANE Select
NP_000119.1:p.Ser452=