Canonical Allele Identifier: CA415237880

Gene: G6PD

Linked Data

• ClinVar Variation Id: 1722741
• ClinVar RCV Id: RCV002305851
• gnomAD v4: X-154534397-C-G
• MyVariant Identifiers: chrX:g.153762612C>G (hg19) ; chrX:g.154534397C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154534397C>G , CM000685.2:g.154534397C>G	GRCh38
NC_000023.10:g.153762612C>G , CM000685.1:g.153762612C>G	GRCh37
NC_000023.9:g.153415806C>G	NCBI36
NG_009015.2:g.18176G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000393564.7:c.585G>C	ENSP00000377194.2:p.Gln195His
ENST00000439227.6:c.588G>C	ENSP00000395599.2:p.Gln196His
ENST00000696420.1:c.585G>C	ENSP00000512615.1:p.Gln195His
ENST00000696421.1:c.585G>C	ENSP00000512616.1:p.Gln195His
ENST00000696422.1:c.448G>C
ENST00000696423.1:c.451G>C
ENST00000696424.1:c.465G>C	ENSP00000512619.1:p.Gln155His
ENST00000696425.1:c.585G>C	ENSP00000512620.1:p.Gln195His
ENST00000696426.1:c.585G>C	ENSP00000512621.1:p.Gln195His
ENST00000696427.1:c.585G>C	ENSP00000512622.1:p.Gln195His
ENST00000696428.1:c.*427G>C	ENSP00000512623.1:n.*427G>C
ENST00000696429.1:c.585G>C	ENSP00000512624.1:p.Gln195His
ENST00000696430.1:c.585G>C	ENSP00000512625.1:p.Gln195His
ENST00000393562.10:c.585G>C MANE Select	ENSP00000377192.3:p.Gln195His
ENST00000369620.6:c.585G>C	ENSP00000358633.2:p.Gln195His
ENST00000393562.6:c.675G>C	ENSP00000377192.2:p.Gln225His
ENST00000393564.6:c.585G>C	ENSP00000377194.2:p.Gln195His
ENST00000433845.1:c.585G>C	ENSP00000394690.1:p.Gln195His
ENST00000439227.5:c.588G>C	ENSP00000395599.1:p.Gln196His
ENST00000440967.5:c.588G>C	ENSP00000400648.1:p.Gln196His
ENST00000621232.4:c.585G>C	ENSP00000483686.1:p.Gln195His
NM_000402.4:c.675G>C	NP_000393.4:p.Gln225His
NM_001042351.2:c.585G>C	NP_001035810.1:p.Gln195His
XM_005274657.2:c.678G>C	XP_005274714.1:p.Gln226His
XM_005274658.2:c.588G>C	XP_005274715.1:p.Gln196His
XM_011531132.1:c.678G>C	XP_011529434.1:p.Gln226His
NM_001360016.2:c.585G>C MANE Select	NP_001346945.1:p.Gln195His
NM_001042351.3:c.585G>C	NP_001035810.1:p.Gln195His