Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.10017718T>G , CM000674.2:g.10017718T>G	GRCh38
NC_000012.11:g.10170317T>G , CM000674.1:g.10170317T>G	GRCh37
NC_000012.10:g.10061584T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338896.11:c.681-613T>G MANE Select	ENSP00000344563.5:n.681-613T>G
ENST00000338896.10:c.681-613T>G	ENSP00000344563.5:n.681-613T>G
ENST00000338896.9:c.681-613T>G	ENSP00000344563.5:n.681-613T>G
ENST00000396502.5:c.*1972T>G	ENSP00000379759.1:n.*1972T>G
ENST00000539155.1:c.*2465T>G	ENSP00000444909.1:n.*2465T>G
ENST00000544853.5:c.*129-613T>G	ENSP00000439561.1:n.*129-613T>G
NM_001129998.1:c.681-613T>G	NP_001123470.1:n.681-613T>G
NM_205852.2:c.*1972T>G	NP_995324.2:n.*1972T>G
NR_120484.1:n.249-1945A>C
XM_006719070.2:c.681-700T>G	XP_006719133.1:n.681-700T>G
XM_006719071.2:c.*3-613T>G	XP_006719134.1:n.*3-613T>G
XM_006719072.1:c.*745T>G	XP_006719135.1:n.*745T>G
XM_011520658.1:c.654-613T>G	XP_011518960.1:n.654-613T>G
XM_011520659.1:c.*721T>G	XP_011518961.1:n.*721T>G
XM_011520660.1:c.*716T>G	XP_011518962.1:n.*716T>G
XM_011520661.1:c.*10-613T>G	XP_011518963.1:n.*10-613T>G
XM_011520662.1:c.*752T>G	XP_011518964.1:n.*752T>G
XM_011520663.1:c.526-613T>G	XP_011518965.1:n.526-613T>G
XM_011520664.1:c.526-700T>G	XP_011518966.1:n.526-700T>G
XR_242889.3:n.956-613T>G
XR_931290.1:n.1698T>G
NM_001129998.2:c.681-613T>G	NP_001123470.1:n.681-613T>G
NM_001319241.1:c.372-613T>G	NP_001306170.1:n.372-613T>G
NM_001319242.1:c.*1972T>G	NP_001306171.1:n.*1972T>G
NM_205852.3:c.*1972T>G	NP_995324.2:n.*1972T>G
NR_135049.1:n.961-613T>G
XM_011520658.2:c.654-613T>G	XP_011518960.1:n.654-613T>G
XM_011520663.2:c.526-613T>G	XP_011518965.1:n.526-613T>G
XM_017019295.1:c.372-613T>G	XP_016874784.1:n.372-613T>G
XM_024448976.1:c.681-700T>G	XP_024304744.1:n.681-700T>G
XM_024448977.1:c.*1979T>G	XP_024304745.1:n.*1979T>G
XR_002957401.1:n.106-1570A>C
NM_001129998.3:c.681-613T>G MANE Select	NP_001123470.1:n.681-613T>G
NM_001387138.1:c.681-700T>G	NP_001374067.1:n.681-700T>G
NR_169587.1:n.258-1570A>C