Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.10017889A>T , CM000674.2:g.10017889A>T	GRCh38
NC_000012.11:g.10170488A>T , CM000674.1:g.10170488A>T	GRCh37
NC_000012.10:g.10061755A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338896.11:c.681-442A>T MANE Select	ENSP00000344563.5:n.681-442A>T
ENST00000338896.10:c.681-442A>T	ENSP00000344563.5:n.681-442A>T
ENST00000338896.9:c.681-442A>T	ENSP00000344563.5:n.681-442A>T
ENST00000396502.5:c.*2143A>T	ENSP00000379759.1:n.*2143A>T
ENST00000539155.1:c.*2636A>T	ENSP00000444909.1:n.*2636A>T
ENST00000544853.5:c.*129-442A>T	ENSP00000439561.1:n.*129-442A>T
NM_001129998.1:c.681-442A>T	NP_001123470.1:n.681-442A>T
NM_205852.2:c.*2143A>T	NP_995324.2:n.*2143A>T
NR_120484.1:n.249-2116T>A
XM_006719070.2:c.681-529A>T	XP_006719133.1:n.681-529A>T
XM_006719071.2:c.*3-442A>T	XP_006719134.1:n.*3-442A>T
XM_006719072.1:c.*916A>T	XP_006719135.1:n.*916A>T
XM_011520658.1:c.654-442A>T	XP_011518960.1:n.654-442A>T
XM_011520659.1:c.*892A>T	XP_011518961.1:n.*892A>T
XM_011520660.1:c.*887A>T	XP_011518962.1:n.*887A>T
XM_011520661.1:c.*10-442A>T	XP_011518963.1:n.*10-442A>T
XM_011520662.1:c.*923A>T	XP_011518964.1:n.*923A>T
XM_011520663.1:c.526-442A>T	XP_011518965.1:n.526-442A>T
XM_011520664.1:c.526-529A>T	XP_011518966.1:n.526-529A>T
XR_242889.3:n.956-442A>T
XR_931290.1:n.1869A>T
NM_001129998.2:c.681-442A>T	NP_001123470.1:n.681-442A>T
NM_001319241.1:c.372-442A>T	NP_001306170.1:n.372-442A>T
NM_001319242.1:c.*2143A>T	NP_001306171.1:n.*2143A>T
NM_205852.3:c.*2143A>T	NP_995324.2:n.*2143A>T
NR_135049.1:n.961-442A>T
XM_011520658.2:c.654-442A>T	XP_011518960.1:n.654-442A>T
XM_011520663.2:c.526-442A>T	XP_011518965.1:n.526-442A>T
XM_017019295.1:c.372-442A>T	XP_016874784.1:n.372-442A>T
XM_024448976.1:c.681-529A>T	XP_024304744.1:n.681-529A>T
XM_024448977.1:c.*2150A>T	XP_024304745.1:n.*2150A>T
XR_002957401.1:n.106-1741T>A
NM_001129998.3:c.681-442A>T MANE Select	NP_001123470.1:n.681-442A>T
NM_001387138.1:c.681-529A>T	NP_001374067.1:n.681-529A>T
NR_169587.1:n.258-1741T>A