Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.59833036C>T , CM000675.2:g.59833036C>T	GRCh38
NC_000013.10:g.60407170C>T , CM000675.1:g.60407170C>T	GRCh37
NC_000013.9:g.59305171C>T	NCBI36
NG_032693.1:g.335950G>A
NG_032693.2:g.335950G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001042517.2:c.3027+71G>A MANE Select	NP_001035982.1:n.3027+71G>A
ENST00000400324.9:c.3027+71G>A MANE Select	ENSP00000383178.3:n.3027+71G>A
NM_001042517.1:c.3027+71G>A	NP_001035982.1:n.3027+71G>A
NM_001258366.1:c.2994+71G>A	NP_001245295.1:n.2994+71G>A
NM_001258366.2:c.2994+71G>A	NP_001245295.1:n.2994+71G>A
NM_001258367.1:c.2889+71G>A	NP_001245296.1:n.2889+71G>A
NM_001258367.2:c.2889+71G>A	NP_001245296.1:n.2889+71G>A
NM_001258368.1:c.2817+71G>A	NP_001245297.1:n.2817+71G>A
NM_001258368.2:c.2817+71G>A	NP_001245297.1:n.2817+71G>A
NM_001258369.1:c.3027+71G>A	NP_001245298.1:n.3027+71G>A
NM_001258369.2:c.3027+71G>A	NP_001245298.1:n.3027+71G>A
NM_030932.3:c.2238+71G>A	NP_112194.2:n.2238+71G>A
NM_030932.4:c.2238+71G>A	NP_112194.2:n.2238+71G>A
ENST00000267215.8:c.3027+71G>A	ENSP00000267215.4:n.3027+71G>A
ENST00000377908.6:c.2994+71G>A	ENSP00000367141.2:n.2994+71G>A
ENST00000400319.5:c.2817+71G>A	ENSP00000383173.1:n.2817+71G>A
ENST00000400320.5:c.2889+71G>A	ENSP00000383174.1:n.2889+71G>A
ENST00000400324.8:c.3027+71G>A	ENSP00000383178.3:n.3027+71G>A
ENST00000465066.5:c.2238+71G>A	ENSP00000478137.1:n.2238+71G>A
XM_006719876.1:c.2238+71G>A	XP_006719939.1:n.2238+71G>A
XM_011535258.1:c.3027+71G>A	XP_011533560.1:n.3027+71G>A
XM_011535258.2:c.3027+71G>A	XP_011533560.1:n.3027+71G>A
XM_011535259.1:c.3027+71G>A	XP_011533561.1:n.3027+71G>A
XM_011535260.1:c.3027+71G>A	XP_011533562.1:n.3027+71G>A
XM_011535261.1:c.2817+71G>A	XP_011533563.1:n.2817+71G>A
XM_011535262.1:c.2238+71G>A	XP_011533564.1:n.2238+71G>A
XM_024449422.1:c.3027+71G>A	XP_024305190.1:n.3027+71G>A
XR_001749694.1:n.3211+71G>A
XR_002957477.1:n.3189+71G>A
XR_002957478.1:n.3189+71G>A
XR_002957479.1:n.3189+71G>A
XR_002957480.1:n.3189+71G>A
XR_941672.1:n.3189+71G>A