Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.10017614C>A , CM000674.2:g.10017614C>A	GRCh38
NC_000012.11:g.10170213C>A , CM000674.1:g.10170213C>A	GRCh37
NC_000012.10:g.10061480C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338896.11:c.681-717C>A MANE Select	ENSP00000344563.5:n.681-717C>A
ENST00000338896.10:c.681-717C>A	ENSP00000344563.5:n.681-717C>A
ENST00000338896.9:c.681-717C>A	ENSP00000344563.5:n.681-717C>A
ENST00000396502.5:c.*1868C>A	ENSP00000379759.1:n.*1868C>A
ENST00000539155.1:c.*2361C>A	ENSP00000444909.1:n.*2361C>A
ENST00000544853.5:c.*129-717C>A	ENSP00000439561.1:n.*129-717C>A
NM_001129998.1:c.681-717C>A	NP_001123470.1:n.681-717C>A
NM_205852.2:c.*1868C>A	NP_995324.2:n.*1868C>A
NR_120484.1:n.249-1841G>T
XM_006719070.2:c.681-804C>A	XP_006719133.1:n.681-804C>A
XM_006719071.2:c.*3-717C>A	XP_006719134.1:n.*3-717C>A
XM_006719072.1:c.*641C>A	XP_006719135.1:n.*641C>A
XM_011520658.1:c.654-717C>A	XP_011518960.1:n.654-717C>A
XM_011520659.1:c.*617C>A	XP_011518961.1:n.*617C>A
XM_011520660.1:c.*612C>A	XP_011518962.1:n.*612C>A
XM_011520661.1:c.*10-717C>A	XP_011518963.1:n.*10-717C>A
XM_011520662.1:c.*648C>A	XP_011518964.1:n.*648C>A
XM_011520663.1:c.526-717C>A	XP_011518965.1:n.526-717C>A
XM_011520664.1:c.526-804C>A	XP_011518966.1:n.526-804C>A
XR_242889.3:n.956-717C>A
XR_931290.1:n.1594C>A
NM_001129998.2:c.681-717C>A	NP_001123470.1:n.681-717C>A
NM_001319241.1:c.372-717C>A	NP_001306170.1:n.372-717C>A
NM_001319242.1:c.*1868C>A	NP_001306171.1:n.*1868C>A
NM_205852.3:c.*1868C>A	NP_995324.2:n.*1868C>A
NR_135049.1:n.961-717C>A
XM_011520658.2:c.654-717C>A	XP_011518960.1:n.654-717C>A
XM_011520663.2:c.526-717C>A	XP_011518965.1:n.526-717C>A
XM_017019295.1:c.372-717C>A	XP_016874784.1:n.372-717C>A
XM_024448976.1:c.681-804C>A	XP_024304744.1:n.681-804C>A
XM_024448977.1:c.*1875C>A	XP_024304745.1:n.*1875C>A
XR_002957401.1:n.106-1466G>T
NM_001129998.3:c.681-717C>A MANE Select	NP_001123470.1:n.681-717C>A
NM_001387138.1:c.681-804C>A	NP_001374067.1:n.681-804C>A
NR_169587.1:n.258-1466G>T