Canonical Allele Identifier: CA412642342

Gene: GK

Linked Data

• gnomAD v4: X-30724122-C-A
• MyVariant Identifiers: chrX:g.30742239C>A (hg19) ; chrX:g.30724122C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.30724122C>A , CM000685.2:g.30724122C>A	GRCh38
NC_000023.10:g.30742239C>A , CM000685.1:g.30742239C>A	GRCh37
NC_000023.9:g.30652160C>A	NCBI36
NG_008178.1:g.75764C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000692461.1:c.1589C>A	ENSP00000509378.1:p.Thr530Lys
ENST00000427190.6:c.1523C>A MANE Select	ENSP00000401720.2:p.Thr508Lys
ENST00000479048.6:c.*1226C>A	ENSP00000420676.1:n.*1226C>A
ENST00000378943.7:c.1505C>A	ENSP00000368226.3:p.Thr502Lys
ENST00000378945.7:c.1505C>A	ENSP00000368228.3:p.Thr502Lys
ENST00000378946.7:c.1523C>A	ENSP00000368229.3:p.Thr508Lys
ENST00000427190.5:c.1523C>A	ENSP00000401720.2:p.Thr508Lys
ENST00000481024.5:c.*1379C>A	ENSP00000418873.1:n.*1379C>A
NM_000167.5:c.1505C>A	NP_000158.1:p.Thr502Lys
NM_001128127.2:c.1505C>A	NP_001121599.1:p.Thr502Lys
NM_001205019.1:c.1523C>A	NP_001191948.1:p.Thr508Lys
NM_203391.3:c.1523C>A	NP_976325.1:p.Thr508Lys
XM_005274488.3:c.890C>A	XP_005274545.1:p.Thr297Lys
XM_006724483.2:c.1589C>A	XP_006724546.1:p.Thr530Lys
XM_006724484.2:c.1589C>A	XP_006724547.1:p.Thr530Lys
XM_006724485.2:c.908C>A	XP_006724548.1:p.Thr303Lys
XM_006724486.2:c.908C>A	XP_006724549.1:p.Thr303Lys
XM_011545491.1:c.1607C>A	XP_011543793.1:p.Thr536Lys
XM_011545492.1:c.1607C>A	XP_011543794.1:p.Thr536Lys
XM_011545493.1:c.908C>A	XP_011543795.1:p.Thr303Lys
XM_011545494.1:c.908C>A	XP_011543796.1:p.Thr303Lys
XM_005274488.4:c.890C>A	XP_005274545.1:p.Thr297Lys
XM_006724486.3:c.908C>A	XP_006724549.1:p.Thr303Lys
XM_011545491.2:c.1607C>A	XP_011543793.1:p.Thr536Lys
XM_011545493.2:c.908C>A	XP_011543795.1:p.Thr303Lys
XM_011545494.2:c.908C>A	XP_011543796.1:p.Thr303Lys
XM_017029409.1:c.908C>A	XP_016884898.1:p.Thr303Lys
XM_017029410.1:c.908C>A	XP_016884899.1:p.Thr303Lys
XM_017029411.1:c.890C>A	XP_016884900.1:p.Thr297Lys
XM_017029412.2:c.890C>A	XP_016884901.1:p.Thr297Lys
NM_000167.6:c.1505C>A	NP_000158.1:p.Thr502Lys
NM_001128127.3:c.1505C>A	NP_001121599.1:p.Thr502Lys
NM_001205019.2:c.1523C>A MANE Select	NP_001191948.1:p.Thr508Lys
NM_203391.4:c.1523C>A	NP_976325.1:p.Thr508Lys
NM_001399987.1:c.1589C>A	NP_001386916.1:p.Thr530Lys
NR_174369.1:n.1803C>A
NR_174370.1:n.1531C>A
NR_174371.1:n.1457C>A
NR_174372.1:n.1439C>A
NR_174373.1:n.1513C>A
NR_174374.1:n.1457C>A
NR_174375.1:n.1439C>A