Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.36993505C>A , CM000665.2:g.36993505C>A	GRCh38
NC_000003.11:g.37034996C>A , CM000665.1:g.37034996C>A	GRCh37
NC_000003.10:g.37010000C>A	NCBI36
NG_007109.2:g.5156C>A , LRG_216:g.5156C>A
NG_008418.1:g.4800G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000413740.2:c.-43C>A	ENSP00000416476.2:n.-43C>A
ENST00000616768.6:c.-43C>A	ENSP00000480669.3:n.-43C>A
ENST00000673673.2:c.-43C>A	ENSP00000500979.2:n.-43C>A
ENST00000673899.1:c.-43C>A	ENSP00000501030.1:n.-43C>A
ENST00000674111.1:c.-43C>A	ENSP00000501162.1:n.-43C>A
ENST00000231790.6:c.-43C>A	ENSP00000231790.2:n.-43C>A
ENST00000536378.5:c.-675C>A	ENSP00000444286.2:n.-675C>A
NM_000249.3:c.-43C>A , LRG_216t1:c.-43C>A	NP_000240.1:n.-43C>A
NM_001258271.1:c.-43C>A	NP_001245200.1:n.-43C>A
NM_001258273.1:c.-675C>A	NP_001245202.1:n.-675C>A
XM_005265161.1:c.-43C>A	XP_005265218.1:n.-43C>A
XM_005265164.1:c.-761C>A	XP_005265221.1:n.-761C>A
NM_001167617.2:c.-559C>A	NP_001161089.1:n.-559C>A
NM_001167618.2:c.-988C>A	NP_001161090.1:n.-988C>A
NM_001167619.2:c.-901C>A	NP_001161091.1:n.-901C>A
NM_001258274.2:c.-1138C>A	NP_001245203.1:n.-1138C>A
NM_001354615.1:c.-669C>A	NP_001341544.1:n.-669C>A
NM_001354616.1:c.-669C>A	NP_001341545.1:n.-669C>A
NM_001354617.1:c.-761C>A	NP_001341546.1:n.-761C>A
NM_001354618.1:c.-993C>A	NP_001341547.1:n.-993C>A
NM_001354619.1:c.-1117C>A	NP_001341548.1:n.-1117C>A
NM_001354620.1:c.-327C>A	NP_001341549.1:n.-327C>A
NM_001354621.1:c.-1086C>A	NP_001341550.1:n.-1086C>A
NM_001354622.1:c.-1199C>A	NP_001341551.1:n.-1199C>A
NM_001354623.1:c.-1108C>A	NP_001341552.1:n.-1108C>A
NM_001354624.1:c.-869C>A	NP_001341553.1:n.-869C>A
NM_001354625.1:c.-767C>A	NP_001341554.1:n.-767C>A
NM_001354626.1:c.-864C>A	NP_001341555.1:n.-864C>A
NM_001354627.1:c.-1096C>A	NP_001341556.1:n.-1096C>A
NM_001354628.1:c.-43C>A	NP_001341557.1:n.-43C>A
NM_001354629.1:c.-43C>A	NP_001341558.1:n.-43C>A
NM_001354630.1:c.-43C>A	NP_001341559.1:n.-43C>A
XM_005265161.2:c.-43C>A	XP_005265218.1:n.-43C>A