Canonical Allele Identifier: CA412642320

Gene: GK

Linked Data

• gnomAD v4: X-30724112-C-A
• MyVariant Identifiers: chrX:g.30742229C>A (hg19) ; chrX:g.30724112C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.30724112C>A , CM000685.2:g.30724112C>A	GRCh38
NC_000023.10:g.30742229C>A , CM000685.1:g.30742229C>A	GRCh37
NC_000023.9:g.30652150C>A	NCBI36
NG_008178.1:g.75754C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000692461.1:c.1579C>A	ENSP00000509378.1:p.Arg527Ser
ENST00000427190.6:c.1513C>A MANE Select	ENSP00000401720.2:p.Arg505Ser
ENST00000479048.6:c.*1216C>A	ENSP00000420676.1:n.*1216C>A
ENST00000378943.7:c.1495C>A	ENSP00000368226.3:p.Arg499Ser
ENST00000378945.7:c.1495C>A	ENSP00000368228.3:p.Arg499Ser
ENST00000378946.7:c.1513C>A	ENSP00000368229.3:p.Arg505Ser
ENST00000427190.5:c.1513C>A	ENSP00000401720.2:p.Arg505Ser
ENST00000481024.5:c.*1369C>A	ENSP00000418873.1:n.*1369C>A
NM_000167.5:c.1495C>A	NP_000158.1:p.Arg499Ser
NM_001128127.2:c.1495C>A	NP_001121599.1:p.Arg499Ser
NM_001205019.1:c.1513C>A	NP_001191948.1:p.Arg505Ser
NM_203391.3:c.1513C>A	NP_976325.1:p.Arg505Ser
XM_005274488.3:c.880C>A	XP_005274545.1:p.Arg294Ser
XM_006724483.2:c.1579C>A	XP_006724546.1:p.Arg527Ser
XM_006724484.2:c.1579C>A	XP_006724547.1:p.Arg527Ser
XM_006724485.2:c.898C>A	XP_006724548.1:p.Arg300Ser
XM_006724486.2:c.898C>A	XP_006724549.1:p.Arg300Ser
XM_011545491.1:c.1597C>A	XP_011543793.1:p.Arg533Ser
XM_011545492.1:c.1597C>A	XP_011543794.1:p.Arg533Ser
XM_011545493.1:c.898C>A	XP_011543795.1:p.Arg300Ser
XM_011545494.1:c.898C>A	XP_011543796.1:p.Arg300Ser
XM_005274488.4:c.880C>A	XP_005274545.1:p.Arg294Ser
XM_006724486.3:c.898C>A	XP_006724549.1:p.Arg300Ser
XM_011545491.2:c.1597C>A	XP_011543793.1:p.Arg533Ser
XM_011545493.2:c.898C>A	XP_011543795.1:p.Arg300Ser
XM_011545494.2:c.898C>A	XP_011543796.1:p.Arg300Ser
XM_017029409.1:c.898C>A	XP_016884898.1:p.Arg300Ser
XM_017029410.1:c.898C>A	XP_016884899.1:p.Arg300Ser
XM_017029411.1:c.880C>A	XP_016884900.1:p.Arg294Ser
XM_017029412.2:c.880C>A	XP_016884901.1:p.Arg294Ser
NM_000167.6:c.1495C>A	NP_000158.1:p.Arg499Ser
NM_001128127.3:c.1495C>A	NP_001121599.1:p.Arg499Ser
NM_001205019.2:c.1513C>A MANE Select	NP_001191948.1:p.Arg505Ser
NM_203391.4:c.1513C>A	NP_976325.1:p.Arg505Ser
NM_001399987.1:c.1579C>A	NP_001386916.1:p.Arg527Ser
NR_174369.1:n.1793C>A
NR_174370.1:n.1521C>A
NR_174371.1:n.1447C>A
NR_174372.1:n.1429C>A
NR_174373.1:n.1503C>A
NR_174374.1:n.1447C>A
NR_174375.1:n.1429C>A