Canonical Allele Identifier: CA412642307

Gene: GK

Linked Data

• MyVariant Identifiers: chrX:g.30742223G>C (hg19) ; chrX:g.30724106G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.30724106G>C , CM000685.2:g.30724106G>C	GRCh38
NC_000023.10:g.30742223G>C , CM000685.1:g.30742223G>C	GRCh37
NC_000023.9:g.30652144G>C	NCBI36
NG_008178.1:g.75748G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000692461.1:c.1573G>C	ENSP00000509378.1:p.Glu525Gln
ENST00000427190.6:c.1507G>C MANE Select	ENSP00000401720.2:p.Glu503Gln
ENST00000479048.6:c.*1210G>C	ENSP00000420676.1:n.*1210G>C
ENST00000378943.7:c.1489G>C	ENSP00000368226.3:p.Glu497Gln
ENST00000378945.7:c.1489G>C	ENSP00000368228.3:p.Glu497Gln
ENST00000378946.7:c.1507G>C	ENSP00000368229.3:p.Glu503Gln
ENST00000427190.5:c.1507G>C	ENSP00000401720.2:p.Glu503Gln
ENST00000481024.5:c.*1363G>C	ENSP00000418873.1:n.*1363G>C
NM_000167.5:c.1489G>C	NP_000158.1:p.Glu497Gln
NM_001128127.2:c.1489G>C	NP_001121599.1:p.Glu497Gln
NM_001205019.1:c.1507G>C	NP_001191948.1:p.Glu503Gln
NM_203391.3:c.1507G>C	NP_976325.1:p.Glu503Gln
XM_005274488.3:c.874G>C	XP_005274545.1:p.Glu292Gln
XM_006724483.2:c.1573G>C	XP_006724546.1:p.Glu525Gln
XM_006724484.2:c.1573G>C	XP_006724547.1:p.Glu525Gln
XM_006724485.2:c.892G>C	XP_006724548.1:p.Glu298Gln
XM_006724486.2:c.892G>C	XP_006724549.1:p.Glu298Gln
XM_011545491.1:c.1591G>C	XP_011543793.1:p.Glu531Gln
XM_011545492.1:c.1591G>C	XP_011543794.1:p.Glu531Gln
XM_011545493.1:c.892G>C	XP_011543795.1:p.Glu298Gln
XM_011545494.1:c.892G>C	XP_011543796.1:p.Glu298Gln
XM_005274488.4:c.874G>C	XP_005274545.1:p.Glu292Gln
XM_006724486.3:c.892G>C	XP_006724549.1:p.Glu298Gln
XM_011545491.2:c.1591G>C	XP_011543793.1:p.Glu531Gln
XM_011545493.2:c.892G>C	XP_011543795.1:p.Glu298Gln
XM_011545494.2:c.892G>C	XP_011543796.1:p.Glu298Gln
XM_017029409.1:c.892G>C	XP_016884898.1:p.Glu298Gln
XM_017029410.1:c.892G>C	XP_016884899.1:p.Glu298Gln
XM_017029411.1:c.874G>C	XP_016884900.1:p.Glu292Gln
XM_017029412.2:c.874G>C	XP_016884901.1:p.Glu292Gln
NM_000167.6:c.1489G>C	NP_000158.1:p.Glu497Gln
NM_001128127.3:c.1489G>C	NP_001121599.1:p.Glu497Gln
NM_001205019.2:c.1507G>C MANE Select	NP_001191948.1:p.Glu503Gln
NM_203391.4:c.1507G>C	NP_976325.1:p.Glu503Gln
NM_001399987.1:c.1573G>C	NP_001386916.1:p.Glu525Gln
NR_174369.1:n.1787G>C
NR_174370.1:n.1515G>C
NR_174371.1:n.1441G>C
NR_174372.1:n.1423G>C
NR_174373.1:n.1497G>C
NR_174374.1:n.1441G>C
NR_174375.1:n.1423G>C