Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.25243602C>T , CM000663.2:g.25243602C>T	GRCh38
NC_000001.10:g.25570093C>T , CM000663.1:g.25570093C>T	GRCh37
NC_000001.9:g.25442680C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000243189.12:c.704G>A MANE Select	ENSP00000243189.7:p.Arg235Gln
ENST00000243189.11:c.704G>A	ENSP00000243189.7:p.Arg235Gln
ENST00000473314.6:c.*659G>A	ENSP00000457582.1:n.*659G>A
ENST00000475766.2:n.255G>A
ENST00000498238.1:n.2432G>A
ENST00000564223.5:n.53G>A
ENST00000565733.5:c.381G>A
ENST00000566395.5:c.321G>A
ENST00000568254.5:c.*614G>A	ENSP00000457195.1:n.*614G>A
ENST00000569495.5:n.504G>A
ENST00000570063.5:n.1341G>A
NM_020317.3:c.704G>A	NP_064713.3:p.Arg235Gln
XM_011541797.1:c.704G>A	XP_011540099.1:p.Arg235Gln
XM_011541798.1:c.*67G>A	XP_011540100.1:n.*67G>A
XR_241200.1:n.1617G>A
XR_241201.1:n.1026G>A
XR_946709.1:n.2268G>A
XR_946710.1:n.1950G>A
XR_946711.1:n.1677G>A
XR_946712.1:n.1846G>A
XR_946713.1:n.1572G>A
NM_001321772.1:c.704G>A	NP_001308701.1:p.Arg235Gln
NM_020317.4:c.704G>A	NP_064713.3:p.Arg235Gln
NR_135143.1:n.2497G>A
NR_135144.1:n.1572G>A
NR_135777.1:n.2472G>A
NR_135778.1:n.1846G>A
NR_135780.1:n.1950G>A
NR_135781.1:n.1617G>A
NR_135782.1:n.1299G>A
NR_135783.1:n.1026G>A
NR_135784.1:n.2497G>A
NR_135785.1:n.1025G>A
NR_135786.1:n.2497G>A
NR_135787.1:n.2621G>A
NR_135788.1:n.2563G>A
NR_135789.1:n.3501G>A
XR_946709.2:n.2234G>A
NM_020317.5:c.704G>A MANE Select	NP_064713.3:p.Arg235Gln
NR_135784.2:n.2432G>A
NR_135786.2:n.2432G>A
NM_001321772.2:c.704G>A	NP_001308701.1:p.Arg235Gln
NR_135143.2:n.2432G>A
NR_135144.2:n.1507G>A
NR_135777.2:n.2472G>A
NR_135778.2:n.1781G>A
NR_135780.2:n.1885G>A
NR_135781.2:n.1552G>A
NR_135782.2:n.1234G>A
NR_135783.2:n.961G>A
NR_135785.2:n.960G>A
NR_135787.2:n.2621G>A
NR_135788.2:n.2563G>A
NR_135789.2:n.3501G>A

Linked Data

Genomic Alleles

Transcript Alleles