Canonical Allele Identifier: CA412642305

Gene: GK

Linked Data

• MyVariant Identifiers: chrX:g.30742222T>G (hg19) ; chrX:g.30724105T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.30724105T>G , CM000685.2:g.30724105T>G	GRCh38
NC_000023.10:g.30742222T>G , CM000685.1:g.30742222T>G	GRCh37
NC_000023.9:g.30652143T>G	NCBI36
NG_008178.1:g.75747T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000692461.1:c.1572T>G	ENSP00000509378.1:p.Ser524Arg
ENST00000427190.6:c.1506T>G MANE Select	ENSP00000401720.2:p.Ser502Arg
ENST00000479048.6:c.*1209T>G	ENSP00000420676.1:n.*1209T>G
ENST00000378943.7:c.1488T>G	ENSP00000368226.3:p.Ser496Arg
ENST00000378945.7:c.1488T>G	ENSP00000368228.3:p.Ser496Arg
ENST00000378946.7:c.1506T>G	ENSP00000368229.3:p.Ser502Arg
ENST00000427190.5:c.1506T>G	ENSP00000401720.2:p.Ser502Arg
ENST00000481024.5:c.*1362T>G	ENSP00000418873.1:n.*1362T>G
NM_000167.5:c.1488T>G	NP_000158.1:p.Ser496Arg
NM_001128127.2:c.1488T>G	NP_001121599.1:p.Ser496Arg
NM_001205019.1:c.1506T>G	NP_001191948.1:p.Ser502Arg
NM_203391.3:c.1506T>G	NP_976325.1:p.Ser502Arg
XM_005274488.3:c.873T>G	XP_005274545.1:p.Ser291Arg
XM_006724483.2:c.1572T>G	XP_006724546.1:p.Ser524Arg
XM_006724484.2:c.1572T>G	XP_006724547.1:p.Ser524Arg
XM_006724485.2:c.891T>G	XP_006724548.1:p.Ser297Arg
XM_006724486.2:c.891T>G	XP_006724549.1:p.Ser297Arg
XM_011545491.1:c.1590T>G	XP_011543793.1:p.Ser530Arg
XM_011545492.1:c.1590T>G	XP_011543794.1:p.Ser530Arg
XM_011545493.1:c.891T>G	XP_011543795.1:p.Ser297Arg
XM_011545494.1:c.891T>G	XP_011543796.1:p.Ser297Arg
XM_005274488.4:c.873T>G	XP_005274545.1:p.Ser291Arg
XM_006724486.3:c.891T>G	XP_006724549.1:p.Ser297Arg
XM_011545491.2:c.1590T>G	XP_011543793.1:p.Ser530Arg
XM_011545493.2:c.891T>G	XP_011543795.1:p.Ser297Arg
XM_011545494.2:c.891T>G	XP_011543796.1:p.Ser297Arg
XM_017029409.1:c.891T>G	XP_016884898.1:p.Ser297Arg
XM_017029410.1:c.891T>G	XP_016884899.1:p.Ser297Arg
XM_017029411.1:c.873T>G	XP_016884900.1:p.Ser291Arg
XM_017029412.2:c.873T>G	XP_016884901.1:p.Ser291Arg
NM_000167.6:c.1488T>G	NP_000158.1:p.Ser496Arg
NM_001128127.3:c.1488T>G	NP_001121599.1:p.Ser496Arg
NM_001205019.2:c.1506T>G MANE Select	NP_001191948.1:p.Ser502Arg
NM_203391.4:c.1506T>G	NP_976325.1:p.Ser502Arg
NM_001399987.1:c.1572T>G	NP_001386916.1:p.Ser524Arg
NR_174369.1:n.1786T>G
NR_174370.1:n.1514T>G
NR_174371.1:n.1440T>G
NR_174372.1:n.1422T>G
NR_174373.1:n.1496T>G
NR_174374.1:n.1440T>G
NR_174375.1:n.1422T>G