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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_000003.12:g.52403639A>G , CM000665.2:g.52403639A>G
GRCh38
NC_000003.11:g.52437655A>G , CM000665.1:g.52437655A>G
GRCh37
NC_000003.10:g.52412695A>G
NCBI36
NG_031859.1:g.11355T>C , LRG_529:g.11355T>C
Transcript Alleles
HGVS
Amino-acid change
ENST00000460680.6:c.1506T>C
MANE Select
ENSP00000417132.1:p.Ala502=
ENST00000296288.9:c.1452T>C
ENSP00000296288.5:p.Ala484=
ENST00000460680.5:c.1506T>C
ENSP00000417132.1:p.Ala502=
ENST00000469613.5:c.119+162T>C
ENST00000478368.1:c.9T>C
ENSP00000420647.1:p.Ala3=
NM_004656.3:c.1506T>C
NP_004647.1:p.Ala502=
XM_011534149.1:c.1506T>C
XP_011532451.1:p.Ala502=
XM_011534150.1:c.1506T>C
XP_011532452.1:p.Ala502=
XM_011534151.1:c.1452T>C
XP_011532453.1:p.Ala484=
XM_011534152.1:c.1506T>C
XP_011532454.1:p.Ala502=
XM_011534149.3:c.1506T>C
XP_011532451.1:p.Ala502=
XM_011534150.3:c.1506T>C
XP_011532452.1:p.Ala502=
XM_011534151.3:c.1452T>C
XP_011532453.1:p.Ala484=
XM_011534152.2:c.1506T>C
XP_011532454.1:p.Ala502=
XM_017007303.2:c.1452T>C
XP_016862792.1:p.Ala484=
NM_004656.4:c.1506T>C
MANE Select
NP_004647.1:p.Ala502=