Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.10154377A>G , CM000681.2:g.10154377A>G	GRCh38
NC_000019.9:g.10265053A>G , CM000681.1:g.10265053A>G	GRCh37
NC_000019.8:g.10126053A>G	NCBI36
NG_028016.3:g.81910T>C , LRG_362:g.81910T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359526.9:c.1935T>C MANE Select	ENSP00000352516.3:p.Asp645=
ENST00000676604.1:n.1547T>C
ENST00000676610.1:c.1887T>C	ENSP00000504236.1:p.Asp629=
ENST00000676820.1:n.1943T>C
ENST00000676868.1:n.2571T>C
ENST00000677013.1:c.*1577T>C	ENSP00000503135.1:n.*1577T>C
ENST00000677250.1:c.*1007T>C	ENSP00000502894.1:n.*1007T>C
ENST00000677616.1:c.1578T>C	ENSP00000503055.1:p.Asp526=
ENST00000677634.1:c.1887T>C	ENSP00000504246.1:p.Asp629=
ENST00000677685.1:c.*1112T>C	ENSP00000503407.1:n.*1112T>C
ENST00000677783.1:n.2357T>C
ENST00000677946.1:c.1887T>C	ENSP00000504202.1:p.Asp629=
ENST00000678024.1:n.2030T>C
ENST00000678694.1:n.1208T>C
ENST00000678804.1:c.1887T>C	ENSP00000503853.1:p.Asp629=
ENST00000679103.1:c.1887T>C	ENSP00000503151.1:p.Asp629=
ENST00000679313.1:c.1887T>C	ENSP00000504512.1:p.Asp629=
ENST00000340748.8:c.1887T>C	ENSP00000345739.3:p.Asp629=
ENST00000359526.8:c.1935T>C	ENSP00000352516.3:p.Asp645=
ENST00000540357.5:c.879T>C	ENSP00000440457.2:p.Asp293=
ENST00000586799.1:c.321T>C
ENST00000592705.5:c.*1625T>C	ENSP00000466657.1:n.*1625T>C
NM_001130823.1:c.1935T>C , LRG_362t1:c.1935T>C	NP_001124295.1:p.Asp645=
NM_001379.2:c.1887T>C	NP_001370.1:p.Asp629=
XM_011527772.1:c.1935T>C	XP_011526074.1:p.Asp645=
XM_011527773.1:c.1887T>C	XP_011526075.1:p.Asp629=
XM_011527774.1:c.1524T>C	XP_011526076.1:p.Asp508=
NM_001130823.2:c.1935T>C	NP_001124295.1:p.Asp645=
NM_001318730.1:c.1887T>C	NP_001305659.1:p.Asp629=
NM_001318731.1:c.1572T>C	NP_001305660.1:p.Asp524=
NM_001379.3:c.1887T>C	NP_001370.1:p.Asp629=
NM_001130823.3:c.1935T>C MANE Select	NP_001124295.1:p.Asp645=
NM_001318730.2:c.1887T>C	NP_001305659.1:p.Asp629=
NM_001318731.2:c.1572T>C	NP_001305660.1:p.Asp524=
NM_001379.4:c.1887T>C	NP_001370.1:p.Asp629=