Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7220669C>A , CM000679.2:g.7220669C>A	GRCh38
NC_000017.10:g.7123988C>A , CM000679.1:g.7123988C>A	GRCh37
NC_000017.9:g.7064712C>A	NCBI36
NG_007975.1:g.5836C>A
NG_008391.2:g.4382G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.270C>A MANE Select	ENSP00000349297.5:p.Tyr90Ter
ENST00000322910.9:c.*225C>A	ENSP00000325395.5:n.*225C>A
ENST00000350303.9:c.204C>A	ENSP00000344152.5:p.Tyr68Ter
ENST00000356839.9:c.270C>A	ENSP00000349297.5:p.Tyr90Ter
ENST00000543245.6:c.339C>A	ENSP00000438689.2:p.Tyr113Ter
ENST00000577191.5:n.347C>A
ENST00000577433.5:n.478C>A
ENST00000577857.5:n.229-97C>A
ENST00000578269.5:n.717C>A
ENST00000578421.1:n.478C>A
ENST00000579286.5:n.451C>A
ENST00000579886.2:c.201+143C>A	ENSP00000463246.1:n.201+143C>A
ENST00000580263.5:n.434C>A
ENST00000581562.5:n.317C>A
ENST00000582056.5:n.360C>A
ENST00000582166.1:n.158C>A
ENST00000582356.5:n.469C>A
ENST00000583312.5:c.270C>A	ENSP00000467920.1:p.Tyr90Ter
ENST00000584103.5:c.270C>A	ENSP00000465353.1:p.Tyr90Ter
NM_000018.3:c.270C>A	NP_000009.1:p.Tyr90Ter
NM_001033859.2:c.204C>A	NP_001029031.1:p.Tyr68Ter
NM_001270447.1:c.339C>A	NP_001257376.1:p.Tyr113Ter
NM_001270448.1:c.42C>A	NP_001257377.1:p.Tyr14Ter
XM_006721516.2:c.270C>A	XP_006721579.2:p.Tyr90Ter
XM_011523829.1:c.270C>A	XP_011522131.1:p.Tyr90Ter
XM_011523830.1:c.270C>A	XP_011522132.1:p.Tyr90Ter
XR_934021.1:n.377C>A
XR_934022.1:n.377C>A
XR_934023.1:n.377C>A
XM_006721516.3:c.270C>A	XP_006721579.2:p.Tyr90Ter
XM_011523829.2:c.270C>A	XP_011522131.1:p.Tyr90Ter
XM_011523830.2:c.270C>A	XP_011522132.1:p.Tyr90Ter
XM_024450741.1:c.270C>A	XP_024306509.1:p.Tyr90Ter
XR_934021.2:n.329C>A
XR_934022.2:n.329C>A
XR_934023.2:n.329C>A
NM_000018.4:c.270C>A MANE Select	NP_000009.1:p.Tyr90Ter
NM_001033859.3:c.204C>A	NP_001029031.1:p.Tyr68Ter
NM_001270447.2:c.339C>A	NP_001257376.1:p.Tyr113Ter
NM_001270448.2:c.42C>A	NP_001257377.1:p.Tyr14Ter

Linked Data

Genomic Alleles

Transcript Alleles