Canonical Allele Identifier: CA120955

Gene: G6PD

Linked Data

• ClinVar Variation Id: 100057
• ClinVar RCV Id: RCV000011087 ; RCV000079409 ; RCV000011086 ; RCV000011088 ; RCV000179363 ; RCV000445579 ; RCV000477810 ; RCV001250219 ; RCV000623137 ; RCV000761429 ; RCV001265539 ; RCV002227060 ; RCV003925095 ; RCV001528124
• dbSNP Id: rs5030868
• ExAC: X:153762634 G / A
• gnomAD v2: X-153762634-G-A
• gnomAD v3: X-154534419-G-A
• gnomAD v4: X-154534419-G-A
• COSMIC: COSM3973478 ; COSM3973479 ; COSM3973480
• MyVariant Identifiers: chrX:g.153762634G>A (hg19) ; chrX:g.154534419G>A (hg38)
• PubMed: PMID:1551674 ; PMID:1972698 ; PMID:1978555 ; PMID:2503817 ; PMID:2633878 ; PMID:3393536 ; PMID:4974311 ; PMID:5305539 ; PMID:5369703 ; PMID:6698555 ; PMID:7203486 ; PMID:7283560 ; PMID:9342374 ; PMID:9427729 ; PMID:11445808 ; PMID:12768444 ; PMID:14278484 ; PMID:15315792 ; PMID:15502081 ; PMID:15735168 ; PMID:18177777 ; PMID:19594365 ; PMID:22906047 ; PMID:23479361 ; PMID:23891399 ; PMID:24586352 ; PMID:25326637

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154534419G>A , CM000685.2:g.154534419G>A	GRCh38
NC_000023.10:g.153762634G>A , CM000685.1:g.153762634G>A	GRCh37
NC_000023.9:g.153415828G>A	NCBI36
NG_009015.2:g.18154C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393564.7:c.563C>T	ENSP00000377194.2:p.Ser188Phe
ENST00000439227.6:c.566C>T	ENSP00000395599.2:p.Ser189Phe
ENST00000696420.1:c.563C>T	ENSP00000512615.1:p.Ser188Phe
ENST00000696421.1:c.563C>T	ENSP00000512616.1:p.Ser188Phe
ENST00000696422.1:c.426C>T
ENST00000696423.1:c.429C>T
ENST00000696424.1:c.443C>T	ENSP00000512619.1:p.Ser148Phe
ENST00000696425.1:c.563C>T	ENSP00000512620.1:p.Ser188Phe
ENST00000696426.1:c.563C>T	ENSP00000512621.1:p.Ser188Phe
ENST00000696427.1:c.563C>T	ENSP00000512622.1:p.Ser188Phe
ENST00000696428.1:c.*405C>T	ENSP00000512623.1:n.*405C>T
ENST00000696429.1:c.563C>T	ENSP00000512624.1:p.Ser188Phe
ENST00000696430.1:c.563C>T	ENSP00000512625.1:p.Ser188Phe
ENST00000393562.10:c.563C>T MANE Select	ENSP00000377192.3:p.Ser188Phe
ENST00000369620.6:c.563C>T	ENSP00000358633.2:p.Ser188Phe
ENST00000393562.6:c.653C>T	ENSP00000377192.2:p.Ser218Phe
ENST00000393564.6:c.563C>T	ENSP00000377194.2:p.Ser188Phe
ENST00000433845.1:c.563C>T	ENSP00000394690.1:p.Ser188Phe
ENST00000439227.5:c.566C>T	ENSP00000395599.1:p.Ser189Phe
ENST00000440967.5:c.566C>T	ENSP00000400648.1:p.Ser189Phe
ENST00000621232.4:c.563C>T	ENSP00000483686.1:p.Ser188Phe
NM_000402.4:c.653C>T	NP_000393.4:p.Ser218Phe
NM_001042351.2:c.563C>T	NP_001035810.1:p.Ser188Phe
XM_005274657.2:c.656C>T	XP_005274714.1:p.Ser219Phe
XM_005274658.2:c.566C>T	XP_005274715.1:p.Ser189Phe
XM_011531132.1:c.656C>T	XP_011529434.1:p.Ser219Phe
NM_001360016.2:c.563C>T MANE Select	NP_001346945.1:p.Ser188Phe
NM_001042351.3:c.563C>T	NP_001035810.1:p.Ser188Phe