Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.218384301T>A , CM000664.2:g.218384301T>A	GRCh38
NC_000002.11:g.219249024T>A , CM000664.1:g.219249024T>A	GRCh37
NC_000002.10:g.218957268T>A	NCBI36
NG_012128.1:g.7273T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233202.11:c.209T>A MANE Select	ENSP00000233202.6:p.Ile70Asn
ENST00000233202.10:c.209T>A	ENSP00000233202.6:p.Ile70Asn
ENST00000354352.9:c.209T>A	ENSP00000346320.5:p.Ile70Asn
ENST00000465984.5:n.332-846T>A
ENST00000468221.5:n.1689T>A
ENST00000469449.1:n.615T>A
ENST00000469799.5:n.98-846T>A
ENST00000471875.5:n.156T>A
ENST00000473367.5:c.151-18T>A	ENSP00000484905.1:n.151-18T>A
ENST00000475225.5:n.186-18T>A
ENST00000481524.5:c.8-846T>A	ENSP00000483970.1:n.8-846T>A
ENST00000483487.2:n.135T>A
ENST00000492413.5:n.291T>A
ENST00000494322.5:n.305T>A
ENST00000539932.5:c.66T>A	ENSP00000443435.2:p.His22Gln
NM_000578.3:c.209T>A	NP_000569.3:p.Ile70Asn
XM_005246793.2:c.8T>A	XP_005246850.1:p.Ile3Asn
XM_005246794.2:c.-220T>A	XP_005246851.1:n.-220T>A
XM_006712709.2:c.-220T>A	XP_006712772.1:n.-220T>A
XM_006712710.2:c.-155-846T>A	XP_006712773.1:n.-155-846T>A
XM_006712711.2:c.-174-846T>A	XP_006712774.1:n.-174-846T>A
XM_011511684.1:c.-228T>A	XP_011509986.1:n.-228T>A
XM_011511685.1:c.-228T>A	XP_011509987.1:n.-228T>A
XR_427107.1:n.372T>A
XR_427108.2:n.669T>A
XM_005246793.4:c.8T>A	XP_005246850.1:p.Ile3Asn
XM_005246794.4:c.-220T>A	XP_005246851.1:n.-220T>A
XM_006712709.4:c.-220T>A	XP_006712772.1:n.-220T>A
XM_006712710.4:c.-155-846T>A	XP_006712773.1:n.-155-846T>A
XM_006712711.4:c.-174-846T>A	XP_006712774.1:n.-174-846T>A
XM_011511684.3:c.-228T>A	XP_011509986.1:n.-228T>A
XM_011511685.3:c.-228T>A	XP_011509987.1:n.-228T>A
XM_017004765.2:c.151-846T>A	XP_016860254.1:n.151-846T>A
XM_017004766.2:c.8T>A	XP_016860255.1:p.Ile3Asn
XM_017004767.2:c.209T>A	XP_016860256.1:p.Ile70Asn
XR_427107.3:n.358T>A
XR_427108.4:n.669T>A
NM_000578.4:c.209T>A MANE Select	NP_000569.3:p.Ile70Asn

Linked Data

Genomic Alleles

Transcript Alleles