Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.209938388G>A , CM000663.2:g.209938388G>A	GRCh38
NC_000001.10:g.210111733G>A , CM000663.1:g.210111733G>A	GRCh37
NC_000001.9:g.208178356G>A	NCBI36
NG_031962.1:g.5215G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001146262.4:c.13+111G>A MANE Select	NP_001139734.1:n.13+111G>A
ENST00000367019.6:c.13+111G>A MANE Select	ENSP00000355986.1:n.13+111G>A
NM_001146261.2:c.27+111G>A	NP_001139733.1:n.27+111G>A
NM_001146261.3:c.27+111G>A	NP_001139733.1:n.27+111G>A
NM_001146261.4:c.27+111G>A	NP_001139733.1:n.27+111G>A
NM_001146262.2:c.13+111G>A	NP_001139734.1:n.13+111G>A
NM_001146262.3:c.13+111G>A	NP_001139734.1:n.13+111G>A
NM_001146264.2:c.27+111G>A	NP_001139736.1:n.27+111G>A
NM_001146264.3:c.27+111G>A	NP_001139736.1:n.27+111G>A
NM_001146264.4:c.27+111G>A	NP_001139736.1:n.27+111G>A
NM_001256006.1:c.-307+111G>A	NP_001242935.1:n.-307+111G>A
NM_001256006.2:c.-307+111G>A	NP_001242935.1:n.-307+111G>A
NM_001256006.3:c.-307+111G>A	NP_001242935.1:n.-307+111G>A
NM_001397544.1:c.-1037+111G>A	NP_001384473.1:n.-1037+111G>A
NM_001397545.1:c.-1242+111G>A	NP_001384474.1:n.-1242+111G>A
NM_153262.3:c.13+111G>A	NP_694994.2:n.13+111G>A
NM_153262.4:c.13+111G>A	NP_694994.2:n.13+111G>A
NM_153262.5:c.13+111G>A	NP_694994.2:n.13+111G>A
NR_027459.2:n.104+111G>A
NR_027459.3:n.61+111G>A
ENST00000367019.5:c.13+111G>A	ENSP00000355986.1:n.13+111G>A
ENST00000399639.6:c.-307+111G>A	ENSP00000445837.2:n.-307+111G>A
ENST00000472886.5:c.13+111G>A	ENSP00000418901.1:n.13+111G>A
ENST00000537238.5:c.-307+111G>A	ENSP00000437423.1:n.-307+111G>A
ENST00000629778.2:c.27+111G>A	ENSP00000486230.1:n.27+111G>A
ENST00000637265.1:c.-534+111G>A	ENSP00000489897.1:n.-534+111G>A
ENST00000637945.1:c.13+111G>A	ENSP00000489671.1:n.13+111G>A
ENST00000652023.1:n.52-14321G>A
ENST00000699295.1:c.-1242+111G>A	ENSP00000514275.1:n.-1242+111G>A
XM_017000932.2:c.-307+111G>A	XP_016856421.1:n.-307+111G>A
XM_017000933.2:c.-243+111G>A	XP_016856422.1:n.-243+111G>A
XM_017000935.2:c.-424+111G>A	XP_016856424.1:n.-424+111G>A