Canonical Allele Identifier: CA121262

Gene: GK

Linked Data

• ClinVar Variation Id: 10941
• ClinVar RCV Id: RCV000011688
• dbSNP Id: rs587776740
• MyVariant Identifiers: chrX:g.30714158G>C (hg19) ; chrX:g.30696041G>C (hg38)
• PubMed: PMID:8651297

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.30696041G>C , CM000685.2:g.30696041G>C	GRCh38
NC_000023.10:g.30714158G>C , CM000685.1:g.30714158G>C	GRCh37
NC_000023.9:g.30624079G>C	NCBI36
NG_008178.1:g.47683G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000692461.1:c.637-1G>C	ENSP00000509378.1:n.637-1G>C
ENST00000427190.6:c.553-1G>C MANE Select	ENSP00000401720.2:n.553-1G>C
ENST00000479048.6:c.*256-1G>C	ENSP00000420676.1:n.*256-1G>C
ENST00000378943.7:c.553-1G>C	ENSP00000368226.3:n.553-1G>C
ENST00000378945.7:c.553-1G>C	ENSP00000368228.3:n.553-1G>C
ENST00000378946.7:c.553-1G>C	ENSP00000368229.3:n.553-1G>C
ENST00000425166.1:c.310-1G>C	ENSP00000404682.1:n.310-1G>C
ENST00000427190.5:c.553-1G>C	ENSP00000401720.2:n.553-1G>C
ENST00000471362.5:c.*96-1G>C	ENSP00000417942.1:n.*96-1G>C
ENST00000479048.5:c.*256-1G>C	ENSP00000420676.1:n.*256-1G>C
ENST00000481024.5:c.*409-1G>C	ENSP00000418873.1:n.*409-1G>C
ENST00000487652.5:c.*258-1G>C	ENSP00000419332.1:n.*258-1G>C
ENST00000488296.1:c.373-1G>C	ENSP00000419771.1:n.373-1G>C
NM_000167.5:c.553-1G>C	NP_000158.1:n.553-1G>C
NM_001128127.2:c.553-1G>C	NP_001121599.1:n.553-1G>C
NM_001205019.1:c.553-1G>C	NP_001191948.1:n.553-1G>C
NM_203391.3:c.553-1G>C	NP_976325.1:n.553-1G>C
XM_005274488.3:c.-63-1G>C	XP_005274545.1:n.-63-1G>C
XM_006724483.2:c.637-1G>C	XP_006724546.1:n.637-1G>C
XM_006724484.2:c.637-1G>C	XP_006724547.1:n.637-1G>C
XM_006724485.2:c.-63-1G>C	XP_006724548.1:n.-63-1G>C
XM_006724486.2:c.-63-1G>C	XP_006724549.1:n.-63-1G>C
XM_011545491.1:c.637-1G>C	XP_011543793.1:n.637-1G>C
XM_011545492.1:c.637-1G>C	XP_011543794.1:n.637-1G>C
XM_011545493.1:c.-63-1G>C	XP_011543795.1:n.-63-1G>C
XM_011545494.1:c.-63-1G>C	XP_011543796.1:n.-63-1G>C
XM_005274488.4:c.-63-1G>C	XP_005274545.1:n.-63-1G>C
XM_006724486.3:c.-63-1G>C	XP_006724549.1:n.-63-1G>C
XM_011545491.2:c.637-1G>C	XP_011543793.1:n.637-1G>C
XM_011545493.2:c.-63-1G>C	XP_011543795.1:n.-63-1G>C
XM_011545494.2:c.-63-1G>C	XP_011543796.1:n.-63-1G>C
XM_017029409.1:c.-63-1G>C	XP_016884898.1:n.-63-1G>C
XM_017029410.1:c.-63-1G>C	XP_016884899.1:n.-63-1G>C
XM_017029411.1:c.-63-1G>C	XP_016884900.1:n.-63-1G>C
XM_017029412.2:c.-63-1G>C	XP_016884901.1:n.-63-1G>C
NM_000167.6:c.553-1G>C	NP_000158.1:n.553-1G>C
NM_001128127.3:c.553-1G>C	NP_001121599.1:n.553-1G>C
NM_001205019.2:c.553-1G>C MANE Select	NP_001191948.1:n.553-1G>C
NM_203391.4:c.553-1G>C	NP_976325.1:n.553-1G>C
NM_001399987.1:c.637-1G>C	NP_001386916.1:n.637-1G>C
NR_174369.1:n.833-1G>C
NR_174370.1:n.561-1G>C
NR_174371.1:n.487-1G>C
NR_174372.1:n.487-1G>C
NR_174373.1:n.561-1G>C
NR_174374.1:n.487-1G>C
NR_174375.1:n.487-1G>C