Canonical Allele Identifier: CA2745722

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.186672838C>T , CM000665.2:g.186672838C>T GRCh38
NC_000003.11:g.186390627C>T , CM000665.1:g.186390627C>T GRCh37
NC_000003.10:g.187873321C>T NCBI36
NG_021485.2:g.17623C>T , LRG_601:g.17623C>T

Transcript Alleles

HGVS Amino-acid Change
NM_000412.5:c.610C>T (HRG) MANE Select NP_000403.1:p.Pro204Ser
ENST00000232003.5:c.610C>T (HRG) MANE Select ENSP00000232003.4:p.Pro204Ser
NM_000412.3:c.610C>T (HRG) NP_000403.1:p.Pro204Ser
NM_000412.4:c.610C>T , LRG_601t1:c.610C>T (HRG) NP_000403.1:p.Pro204Ser
ENST00000232003.4:c.610C>T (HRG) ENSP00000232003.4:p.Pro204Ser
ENST00000495413.1:n.735C>T (HRG)
XM_005247415.3:c.610C>T (HRG) XP_005247472.1:p.Pro204Ser
XM_005247415.4:c.610C>T (HRG) XP_005247472.1:p.Pro204Ser
XR_001741059.1:n.291-20967G>A (HRG-AS1)
XR_924801.1:n.290-20967G>A (HRG-AS1)
XR_924801.2:n.291-20967G>A (HRG-AS1)