Canonical Allele Identifier: CA4903144

Gene: JRK

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.142664551C>T , CM000670.2:g.142664551C>T	GRCh38
NC_000008.10:g.143745968C>T , CM000670.1:g.143745968C>T	GRCh37
NC_000008.9:g.143742970C>T	NCBI36
NG_012215.2:g.10433G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_003724.4:c.1508G>A MANE Select	NP_003715.3:p.Arg503Gln
ENST00000612905.2:c.1508G>A MANE Select	ENSP00000482410.1:p.Arg503Gln
NM_001077527.2:c.1508G>A	NP_001070995.2:p.Arg503Gln
NM_001077527.3:c.1508G>A	NP_001070995.2:p.Arg503Gln
NM_001279352.1:c.1508G>A	NP_001266281.1:p.Arg503Gln
NM_001279352.2:c.1508G>A	NP_001266281.1:p.Arg503Gln
NM_003724.3:c.1508G>A	NP_003715.3:p.Arg503Gln
ENST00000571961.7:c.1508G>A	ENSP00000461610.1:p.Arg503Gln
ENST00000612905.1:c.1508G>A	ENSP00000482410.1:p.Arg503Gln
ENST00000614134.1:c.1508G>A	ENSP00000485390.1:p.Arg503Gln
ENST00000615982.4:c.1508G>A	ENSP00000483808.1:p.Arg503Gln
XM_006716677.2:c.1508G>A	XP_006716740.1:p.Arg503Gln
XM_006716677.4:c.1508G>A	XP_006716740.1:p.Arg503Gln
XM_006716678.2:c.1508G>A	XP_006716741.1:p.Arg503Gln
XM_006716678.4:c.1508G>A	XP_006716741.1:p.Arg503Gln
XM_011517354.1:c.1508G>A	XP_011515656.1:p.Arg503Gln
XM_011517354.2:c.1508G>A	XP_011515656.1:p.Arg503Gln
XM_011517355.1:c.1508G>A	XP_011515657.1:p.Arg503Gln
XM_011517355.2:c.1508G>A	XP_011515657.1:p.Arg503Gln