Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.51488525C>T , CM000677.2:g.51488525C>T	GRCh38
NC_000015.9:g.51780722C>T , CM000677.1:g.51780722C>T	GRCh37
NC_000015.8:g.49568014C>T	NCBI36
NG_017155.1:g.139246G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001378457.1:c.5051+23G>A MANE Select	NP_001365386.1:n.5051+23G>A
ENST00000560891.6:c.5051+23G>A MANE Select	ENSP00000453267.2:n.5051+23G>A
NM_001174116.1:c.5051+23G>A	NP_001167587.1:n.5051+23G>A
NM_001174116.2:c.5051+23G>A	NP_001167587.1:n.5051+23G>A
NM_001174116.3:c.5051+23G>A	NP_001167587.1:n.5051+23G>A
NM_001174117.1:c.3143+23G>A	NP_001167588.1:n.3143+23G>A
NM_001174117.2:c.3143+23G>A	NP_001167588.1:n.3143+23G>A
NM_001174117.3:c.3143+23G>A	NP_001167588.1:n.3143+23G>A
NM_001378458.1:c.5051+23G>A	NP_001365387.1:n.5051+23G>A
NM_001378459.1:c.5051+23G>A	NP_001365388.1:n.5051+23G>A
NM_001378460.1:c.3032+23G>A	NP_001365389.1:n.3032+23G>A
NM_001378461.1:c.5051+23G>A	NP_001365390.1:n.5051+23G>A
NM_001378462.1:c.5051+23G>A	NP_001365391.1:n.5051+23G>A
NM_001378463.1:c.5051+23G>A	NP_001365392.1:n.5051+23G>A
NM_001378464.1:c.4811+23G>A	NP_001365393.1:n.4811+23G>A
NM_015263.3:c.5051+23G>A	NP_056078.2:n.5051+23G>A
NM_015263.4:c.5051+23G>A	NP_056078.2:n.5051+23G>A
NM_015263.5:c.5051+23G>A	NP_056078.2:n.5051+23G>A
NR_165648.1:n.5277+23G>A
NR_165649.1:n.5277+23G>A
ENST00000251076.9:c.5051+23G>A	ENSP00000251076.5:n.5051+23G>A
ENST00000449909.7:c.3143+23G>A	ENSP00000400855.3:n.3143+23G>A
ENST00000543779.6:c.5051+23G>A	ENSP00000441858.2:n.5051+23G>A
XM_005254255.1:c.5051+23G>A	XP_005254312.1:n.5051+23G>A
XM_005254256.1:c.5051+23G>A	XP_005254313.1:n.5051+23G>A
XM_017022034.1:c.4997+23G>A	XP_016877523.1:n.4997+23G>A
XR_001751173.1:n.5339+23G>A
XR_001751174.1:n.5339+23G>A
XR_001751175.1:n.5339+23G>A
XR_001751176.1:n.5339+23G>A
XR_001751177.1:n.5339+23G>A
XR_243084.1:n.5339+23G>A
XR_243085.1:n.5339+23G>A
XR_931779.1:n.5339+23G>A
XR_931779.2:n.5339+23G>A
XR_931780.1:n.5339+23G>A
XR_931780.2:n.5339+23G>A
XR_931781.1:n.5339+23G>A
XR_931781.2:n.5339+23G>A