Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.78629948G>T , CM000677.2:g.78629948G>T	GRCh38
NC_000015.9:g.78922290G>T , CM000677.1:g.78922290G>T	GRCh37
NC_000015.8:g.76709345G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261751.8:c.360-3C>A MANE Select	ENSP00000261751.3:n.360-3C>A
ENST00000261751.7:c.360-3C>A	ENSP00000261751.3:n.360-3C>A
ENST00000412074.6:c.359+1128C>A	ENSP00000416386.2:n.359+1128C>A
ENST00000559849.5:c.*416-3C>A	ENSP00000457404.1:n.*416-3C>A
NM_000750.3:c.360-3C>A	NP_000741.1:n.360-3C>A
NM_001256567.1:c.359+1128C>A	NP_001243496.1:n.359+1128C>A
XM_011521181.1:c.543-3C>A	XP_011519483.1:n.543-3C>A
XM_011521182.1:c.543-3C>A	XP_011519484.1:n.543-3C>A
XM_011521183.1:c.543-3C>A	XP_011519485.1:n.543-3C>A
XM_011521184.1:c.543-3C>A	XP_011519486.1:n.543-3C>A
XM_011521185.1:c.543-3C>A	XP_011519487.1:n.543-3C>A
XM_011521186.1:c.351-3C>A	XP_011519488.1:n.351-3C>A
XM_011521187.1:c.351-3C>A	XP_011519489.1:n.351-3C>A
XM_011521188.1:c.270-3C>A	XP_011519490.1:n.270-3C>A
XM_011521189.1:c.195-3C>A	XP_011519491.1:n.195-3C>A
XM_011521190.1:c.138-3C>A	XP_011519492.1:n.138-3C>A
XM_011521191.1:c.138-3C>A	XP_011519493.1:n.138-3C>A
XM_011521192.1:c.-187-3C>A	XP_011519494.1:n.-187-3C>A
XM_011521193.1:c.542+1128C>A	XP_011519495.1:n.542+1128C>A
NM_000750.4:c.360-3C>A	NP_000741.1:n.360-3C>A
NM_001256567.2:c.359+1128C>A	NP_001243496.1:n.359+1128C>A
XM_011521186.2:c.351-3C>A	XP_011519488.1:n.351-3C>A
XM_011521187.2:c.351-3C>A	XP_011519489.1:n.351-3C>A
XM_011521190.2:c.138-3C>A	XP_011519492.1:n.138-3C>A
XM_011521191.2:c.138-3C>A	XP_011519493.1:n.138-3C>A
XM_011521192.2:c.-187-3C>A	XP_011519494.1:n.-187-3C>A
XM_017021885.1:c.270-3C>A	XP_016877374.1:n.270-3C>A
XM_017021886.1:c.270-3C>A	XP_016877375.1:n.270-3C>A
XM_017021887.1:c.360-3C>A	XP_016877376.1:n.360-3C>A
XM_017021888.1:c.360-3C>A	XP_016877377.1:n.360-3C>A
XM_017021889.2:c.360-3C>A	XP_016877378.1:n.360-3C>A
NM_000750.5:c.360-3C>A MANE Select	NP_000741.1:n.360-3C>A
NM_001256567.3:c.359+1128C>A	NP_001243496.1:n.359+1128C>A