Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.10017885A>C , CM000674.2:g.10017885A>C	GRCh38
NC_000012.11:g.10170484A>C , CM000674.1:g.10170484A>C	GRCh37
NC_000012.10:g.10061751A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000338896.11:c.681-446A>C MANE Select	ENSP00000344563.5:n.681-446A>C
ENST00000338896.10:c.681-446A>C	ENSP00000344563.5:n.681-446A>C
ENST00000338896.9:c.681-446A>C	ENSP00000344563.5:n.681-446A>C
ENST00000396502.5:c.*2139A>C	ENSP00000379759.1:n.*2139A>C
ENST00000539155.1:c.*2632A>C	ENSP00000444909.1:n.*2632A>C
ENST00000544853.5:c.*129-446A>C	ENSP00000439561.1:n.*129-446A>C
NM_001129998.1:c.681-446A>C	NP_001123470.1:n.681-446A>C
NM_205852.2:c.*2139A>C	NP_995324.2:n.*2139A>C
NR_120484.1:n.249-2112T>G
XM_006719070.2:c.681-533A>C	XP_006719133.1:n.681-533A>C
XM_006719071.2:c.*3-446A>C	XP_006719134.1:n.*3-446A>C
XM_006719072.1:c.*912A>C	XP_006719135.1:n.*912A>C
XM_011520658.1:c.654-446A>C	XP_011518960.1:n.654-446A>C
XM_011520659.1:c.*888A>C	XP_011518961.1:n.*888A>C
XM_011520660.1:c.*883A>C	XP_011518962.1:n.*883A>C
XM_011520661.1:c.*10-446A>C	XP_011518963.1:n.*10-446A>C
XM_011520662.1:c.*919A>C	XP_011518964.1:n.*919A>C
XM_011520663.1:c.526-446A>C	XP_011518965.1:n.526-446A>C
XM_011520664.1:c.526-533A>C	XP_011518966.1:n.526-533A>C
XR_242889.3:n.956-446A>C
XR_931290.1:n.1865A>C
NM_001129998.2:c.681-446A>C	NP_001123470.1:n.681-446A>C
NM_001319241.1:c.372-446A>C	NP_001306170.1:n.372-446A>C
NM_001319242.1:c.*2139A>C	NP_001306171.1:n.*2139A>C
NM_205852.3:c.*2139A>C	NP_995324.2:n.*2139A>C
NR_135049.1:n.961-446A>C
XM_011520658.2:c.654-446A>C	XP_011518960.1:n.654-446A>C
XM_011520663.2:c.526-446A>C	XP_011518965.1:n.526-446A>C
XM_017019295.1:c.372-446A>C	XP_016874784.1:n.372-446A>C
XM_024448976.1:c.681-533A>C	XP_024304744.1:n.681-533A>C
XM_024448977.1:c.*2146A>C	XP_024304745.1:n.*2146A>C
XR_002957401.1:n.106-1737T>G
NM_001129998.3:c.681-446A>C MANE Select	NP_001123470.1:n.681-446A>C
NM_001387138.1:c.681-533A>C	NP_001374067.1:n.681-533A>C
NR_169587.1:n.258-1737T>G