Canonical Allele Identifier: CA10566072

Gene: G6PD

Linked Data

• ClinVar Variation Id: 811071
• ClinVar RCV Id: RCV001000681
• dbSNP Id: rs368832453
• ExAC: X:153760917 C / G
• gnomAD v2: X-153760917-C-G
• gnomAD v3: X-154532702-C-G
• gnomAD v4: X-154532702-C-G
• MyVariant Identifiers: chrX:g.153760917C>G (hg19) ; chrX:g.154532702C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154532702C>G , CM000685.2:g.154532702C>G	GRCh38
NC_000023.10:g.153760917C>G , CM000685.1:g.153760917C>G	GRCh37
NC_000023.9:g.153414111C>G	NCBI36
NG_009015.2:g.19871G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000393564.7:c.1152G>C	ENSP00000377194.2:p.Gln384His
ENST00000439227.6:c.1155G>C	ENSP00000395599.2:p.Gln385His
ENST00000696420.1:c.1152G>C	ENSP00000512615.1:p.Gln384His
ENST00000696421.1:c.1152G>C	ENSP00000512616.1:p.Gln384His
ENST00000696422.1:c.1015G>C
ENST00000696423.1:c.1018G>C
ENST00000696424.1:c.1004G>C	ENSP00000512619.1:n.1004G>C
ENST00000696425.1:c.*65G>C	ENSP00000512620.1:n.*65G>C
ENST00000696426.1:c.*612G>C	ENSP00000512621.1:n.*612G>C
ENST00000696427.1:c.*112G>C	ENSP00000512622.1:n.*112G>C
ENST00000696428.1:c.*994G>C	ENSP00000512623.1:n.*994G>C
ENST00000696429.1:c.1152G>C	ENSP00000512624.1:p.Gln384His
ENST00000696430.1:c.1152G>C	ENSP00000512625.1:p.Gln384His
ENST00000393562.10:c.1152G>C MANE Select	ENSP00000377192.3:p.Gln384His
ENST00000369620.6:c.1290G>C	ENSP00000358633.2:p.Gln430His
ENST00000393562.6:c.1242G>C	ENSP00000377192.2:p.Gln414His
ENST00000393564.6:c.1152G>C	ENSP00000377194.2:p.Gln384His
ENST00000490651.1:n.373G>C
ENST00000621232.4:c.1152G>C	ENSP00000483686.1:p.Gln384His
NM_000402.4:c.1242G>C	NP_000393.4:p.Gln414His
NM_001042351.2:c.1152G>C	NP_001035810.1:p.Gln384His
XM_005274657.2:c.1245G>C	XP_005274714.1:p.Gln415His
XM_005274658.2:c.1155G>C	XP_005274715.1:p.Gln385His
XM_011531132.1:c.*65G>C	XP_011529434.1:n.*65G>C
NM_001360016.2:c.1152G>C MANE Select	NP_001346945.1:p.Gln384His
NM_001042351.3:c.1152G>C	NP_001035810.1:p.Gln384His