Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2090425C>T , CM000678.2:g.2090425C>T	GRCh38
NC_000016.9:g.2140426C>T , CM000678.1:g.2140426C>T	GRCh37
NC_000016.8:g.2080427C>T	NCBI36
NG_005895.1:g.46120C>T , LRG_487:g.46120C>T
NG_008617.1:g.52796G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000262304.9:c.12304G>A MANE Select	ENSP00000262304.4:p.Gly4102Arg
ENST00000262304.8:c.12304G>A	ENSP00000262304.4:p.Gly4102Arg
ENST00000423118.5:c.12301G>A	ENSP00000399501.1:p.Gly4101Arg
ENST00000472577.1:n.332G>A
NM_000296.3:c.12301G>A	NP_000287.3:p.Gly4101Arg
NM_001009944.2:c.12304G>A	NP_001009944.2:p.Gly4102Arg
XM_005255370.2:c.9259G>A	XP_005255427.1:p.Gly3087Arg
XM_011522525.1:c.12382G>A	XP_011520827.1:p.Gly4128Arg
XM_011522526.1:c.12379G>A	XP_011520828.1:p.Gly4127Arg
XM_011522527.1:c.12364G>A	XP_011520829.1:p.Gly4122Arg
XM_011522528.1:c.12358G>A	XP_011520830.1:p.Gly4120Arg
XM_011522529.1:c.12355G>A	XP_011520831.1:p.Gly4119Arg
XM_011522530.1:c.12328G>A	XP_011520832.1:p.Gly4110Arg
XM_011522531.1:c.12310G>A	XP_011520833.1:p.Gly4104Arg
XM_011522532.1:c.12256G>A	XP_011520834.1:p.Gly4086Arg
XM_011522533.1:c.12175G>A	XP_011520835.1:p.Gly4059Arg
XM_011522534.1:c.12118G>A	XP_011520836.1:p.Gly4040Arg
XM_011522535.1:c.10204G>A	XP_011520837.1:p.Gly3402Arg
XM_011522537.1:c.9382G>A	XP_011520839.1:p.Gly3128Arg
XR_932867.1:n.12222G>A
XM_005255370.3:c.9259G>A	XP_005255427.1:p.Gly3087Arg
XM_011522528.3:c.12358G>A	XP_011520830.1:p.Gly4120Arg
XM_011522529.2:c.12355G>A	XP_011520831.1:p.Gly4119Arg
XM_011522537.2:c.9382G>A	XP_011520839.1:p.Gly3128Arg
XM_024450298.1:c.12424G>A	XP_024306066.1:p.Gly4142Arg
XM_024450299.1:c.12352G>A	XP_024306067.1:p.Gly4118Arg
XM_024450300.1:c.12214G>A	XP_024306068.1:p.Gly4072Arg
XM_024450301.1:c.10300G>A	XP_024306069.1:p.Gly3434Arg
NM_000296.4:c.12301G>A	NP_000287.4:p.Gly4101Arg
NM_001009944.3:c.12304G>A MANE Select	NP_001009944.3:p.Gly4102Arg

Linked Data

Genomic Alleles

Transcript Alleles