Canonical Allele Identifier: CA415234140

Gene: G6PD

Linked Data

• ClinVar Variation Id: 1722669
• ClinVar RCV Id: RCV002305779
• MyVariant Identifiers: chrX:g.153760930A>G (hg19) ; chrX:g.154532715A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154532715A>G , CM000685.2:g.154532715A>G	GRCh38
NC_000023.10:g.153760930A>G , CM000685.1:g.153760930A>G	GRCh37
NC_000023.9:g.153414124A>G	NCBI36
NG_009015.2:g.19858T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393564.7:c.1139T>C	ENSP00000377194.2:p.Ile380Thr
ENST00000439227.6:c.1142T>C	ENSP00000395599.2:p.Ile381Thr
ENST00000696420.1:c.1139T>C	ENSP00000512615.1:p.Ile380Thr
ENST00000696421.1:c.1139T>C	ENSP00000512616.1:p.Ile380Thr
ENST00000696422.1:c.1002T>C
ENST00000696423.1:c.1005T>C
ENST00000696424.1:c.991T>C	ENSP00000512619.1:n.991T>C
ENST00000696425.1:c.*52T>C	ENSP00000512620.1:n.*52T>C
ENST00000696426.1:c.*599T>C	ENSP00000512621.1:n.*599T>C
ENST00000696427.1:c.*99T>C	ENSP00000512622.1:n.*99T>C
ENST00000696428.1:c.*981T>C	ENSP00000512623.1:n.*981T>C
ENST00000696429.1:c.1139T>C	ENSP00000512624.1:p.Ile380Thr
ENST00000696430.1:c.1139T>C	ENSP00000512625.1:p.Ile380Thr
ENST00000393562.10:c.1139T>C MANE Select	ENSP00000377192.3:p.Ile380Thr
ENST00000369620.6:c.1277T>C	ENSP00000358633.2:p.Ile426Thr
ENST00000393562.6:c.1229T>C	ENSP00000377192.2:p.Ile410Thr
ENST00000393564.6:c.1139T>C	ENSP00000377194.2:p.Ile380Thr
ENST00000490651.1:n.360T>C
ENST00000621232.4:c.1139T>C	ENSP00000483686.1:p.Ile380Thr
NM_000402.4:c.1229T>C	NP_000393.4:p.Ile410Thr
NM_001042351.2:c.1139T>C	NP_001035810.1:p.Ile380Thr
XM_005274657.2:c.1232T>C	XP_005274714.1:p.Ile411Thr
XM_005274658.2:c.1142T>C	XP_005274715.1:p.Ile381Thr
XM_011531132.1:c.*52T>C	XP_011529434.1:n.*52T>C
NM_001360016.2:c.1139T>C MANE Select	NP_001346945.1:p.Ile380Thr
NM_001042351.3:c.1139T>C	NP_001035810.1:p.Ile380Thr