Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.48516081C= , CM000685.2:g.48516081C=	GRCh38
NC_000023.10:g.48374469C= , CM000685.1:g.48374469C=	GRCh37
NC_000023.9:g.48259413C=	NCBI36
NG_009278.1:g.12099C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367574.9:c.1075C=	ENSP00000356546.6:p.Arg359=
ENST00000537758.6:c.1075C=	ENSP00000446401.3:p.Arg359=
ENST00000682661.1:n.2700C=
ENST00000683804.1:n.349C=
ENST00000683923.1:c.1075C=	ENSP00000506737.1:p.Arg359=
ENST00000684722.1:n.2662C=
ENST00000326194.11:c.1108C= MANE Select	ENSP00000322304.6:p.Arg370=
ENST00000485288.7:c.*743C=	ENSP00000420445.3:n.*743C=
ENST00000326194.10:c.1108C=	ENSP00000322304.6:p.Arg370=
ENST00000355092.4:c.940C=	ENSP00000347207.4:p.Arg314=
ENST00000355961.8:c.1093C=	ENSP00000348233.4:p.Arg365=
ENST00000359882.8:c.1090C=	ENSP00000352946.4:p.Arg364=
ENST00000361988.7:c.1075C=	ENSP00000354978.3:p.Arg359=
ENST00000367574.8:c.1090C=	ENSP00000356546.5:p.Arg364=
ENST00000459953.1:n.437C=
ENST00000472520.5:c.*416C=	ENSP00000419858.1:n.*416C=
ENST00000485288.6:c.*743C=	ENSP00000420445.2:n.*743C=
ENST00000491243.5:n.1504C=
ENST00000537758.5:c.1093C=	ENSP00000446401.2:p.Arg365=
NM_001282167.1:c.862C=	NP_001269096.1:p.Arg288=
NM_022825.3:c.1075C=	NP_073736.2:p.Arg359=
NM_203473.2:c.1093C=	NP_982299.1:p.Arg365=
NM_203474.1:c.1090C=	NP_982300.1:p.Arg364=
NM_203475.2:c.1108C=	NP_982301.1:p.Arg370=
XM_005272635.1:c.1432C=	XP_005272692.1:p.Arg478=
XM_005272636.1:c.1414C=	XP_005272693.1:p.Arg472=
XM_005272637.1:c.1360C=	XP_005272694.1:p.Arg454=
XM_006724544.2:c.1213C=	XP_006724607.1:p.Arg405=
XM_006724545.2:c.1159C=	XP_006724608.1:p.Arg387=
XM_006724546.2:c.1108C=	XP_006724609.1:p.Arg370=
XM_006724547.1:c.895C=	XP_006724610.1:p.Arg299=
XM_011543948.1:c.862C=	XP_011542250.1:p.Arg288=
XM_024452425.1:c.1606C=	XP_024308193.1:p.Arg536=
NM_001282167.2:c.862C=	NP_001269096.1:p.Arg288=
NM_022825.4:c.1075C=	NP_073736.2:p.Arg359=
NM_203473.3:c.1093C=	NP_982299.1:p.Arg365=
NM_203475.3:c.1108C= MANE Select	NP_982301.1:p.Arg370=