Canonical Allele Identifier: CA10566065

Gene: G6PD

Linked Data

• ClinVar Variation Id: 800212
• ClinVar RCV Id: RCV000983876 ; RCV001166651 ; RCV003898003
• dbSNP Id: rs201794043
• ExAC: X:153760829 T / G
• gnomAD v2: X-153760829-T-G
• gnomAD v3: X-154532614-T-G
• gnomAD v4: X-154532614-T-G
• MyVariant Identifiers: chrX:g.153760829T>G (hg19) ; chrX:g.154532614T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154532614T>G , CM000685.2:g.154532614T>G	GRCh38
NC_000023.10:g.153760829T>G , CM000685.1:g.153760829T>G	GRCh37
NC_000023.9:g.153414023T>G	NCBI36
NG_009015.2:g.19959A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393564.7:c.1240A>C	ENSP00000377194.2:p.Asn414His
ENST00000439227.6:c.1243A>C	ENSP00000395599.2:p.Asn415His
ENST00000696420.1:c.1240A>C	ENSP00000512615.1:p.Asn414His
ENST00000696421.1:c.1240A>C	ENSP00000512616.1:p.Asn414His
ENST00000696422.1:c.1103A>C
ENST00000696423.1:c.1106A>C
ENST00000696424.1:c.1092A>C	ENSP00000512619.1:n.1092A>C
ENST00000696425.1:c.*153A>C	ENSP00000512620.1:n.*153A>C
ENST00000696426.1:c.*700A>C	ENSP00000512621.1:n.*700A>C
ENST00000696427.1:c.*200A>C	ENSP00000512622.1:n.*200A>C
ENST00000696428.1:c.*1082A>C	ENSP00000512623.1:n.*1082A>C
ENST00000696429.1:c.1240A>C	ENSP00000512624.1:p.Asn414His
ENST00000696430.1:c.1240A>C	ENSP00000512625.1:p.Asn414His
ENST00000393562.10:c.1240A>C MANE Select	ENSP00000377192.3:p.Asn414His
ENST00000369620.6:c.1378A>C	ENSP00000358633.2:p.Asn460His
ENST00000393562.6:c.1330A>C	ENSP00000377192.2:p.Asn444His
ENST00000393564.6:c.1240A>C	ENSP00000377194.2:p.Asn414His
ENST00000490651.1:n.461A>C
ENST00000621232.4:c.1240A>C	ENSP00000483686.1:p.Asn414His
NM_000402.4:c.1330A>C	NP_000393.4:p.Asn444His
NM_001042351.2:c.1240A>C	NP_001035810.1:p.Asn414His
XM_005274657.2:c.1333A>C	XP_005274714.1:p.Asn445His
XM_005274658.2:c.1243A>C	XP_005274715.1:p.Asn415His
XM_011531132.1:c.*153A>C	XP_011529434.1:n.*153A>C
NM_001360016.2:c.1240A>C MANE Select	NP_001346945.1:p.Asn414His
NM_001042351.3:c.1240A>C	NP_001035810.1:p.Asn414His