Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.70483843T>G , CM000678.2:g.70483843T>G	GRCh38
NC_000016.9:g.70517746T>G , CM000678.1:g.70517746T>G	GRCh37
NC_000016.8:g.69075247T>G	NCBI36
NG_027529.1:g.44712A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000534772.2:c.*1903+10A>C	ENSP00000461912.2:n.*1903+10A>C
ENST00000703106.1:c.1872+10A>C	ENSP00000515173.1:n.1872+10A>C
ENST00000703107.1:c.*1756+10A>C	ENSP00000515174.1:n.*1756+10A>C
ENST00000703108.1:c.*275+10A>C	ENSP00000515175.1:n.*275+10A>C
ENST00000703109.1:c.1860+10A>C	ENSP00000515176.1:n.1860+10A>C
ENST00000703110.1:c.*1329+10A>C	ENSP00000515177.1:n.*1329+10A>C
ENST00000703111.1:n.1834+10A>C
ENST00000703112.1:n.2600+10A>C
ENST00000703113.1:c.*1240+10A>C	ENSP00000515178.1:n.*1240+10A>C
ENST00000703114.1:c.*476+10A>C	ENSP00000515179.1:n.*476+10A>C
ENST00000703115.1:c.940+10A>C	ENSP00000515180.1:n.940+10A>C
ENST00000323786.10:c.1827+10A>C MANE Select	ENSP00000315775.5:n.1827+10A>C
ENST00000564415.6:c.*1607+10A>C	ENSP00000456653.2:n.*1607+10A>C
ENST00000674443.1:c.1752+10A>C	ENSP00000501405.1:n.1752+10A>C
ENST00000323786.9:c.1827+10A>C	ENSP00000315775.5:n.1827+10A>C
ENST00000393612.8:c.1764+10A>C	ENSP00000377236.5:n.1764+10A>C
ENST00000482252.5:c.1974+10A>C	ENSP00000432802.1:n.1974+10A>C
ENST00000526700.5:n.1003+10A>C
ENST00000530314.5:n.2506+10A>C
ENST00000564315.1:n.287+10A>C
ENST00000564415.5:c.*1607+10A>C	ENSP00000456653.1:n.*1607+10A>C
NM_001195139.1:c.1764+10A>C	NP_001182068.1:n.1764+10A>C
NM_015386.2:c.1827+10A>C	NP_056201.2:n.1827+10A>C
XM_011522981.1:c.1401+10A>C	XP_011521283.1:n.1401+10A>C
XR_933266.1:n.1773+10A>C
XR_933267.1:n.1773+10A>C
XM_011522981.3:c.1401+10A>C	XP_011521283.1:n.1401+10A>C
XM_024450224.1:c.846+10A>C	XP_024305992.1:n.846+10A>C
XR_001751889.1:n.1710+10A>C
XR_933266.2:n.1773+10A>C
NM_015386.3:c.1827+10A>C MANE Select	NP_056201.2:n.1827+10A>C
NM_001195139.2:c.1752+10A>C	NP_001182068.2:n.1752+10A>C
NM_001365426.1:c.1401+10A>C	NP_001352355.1:n.1401+10A>C
NR_158212.1:n.1786+10A>C