Canonical Allele Identifier: CA10566222

Gene: G6PD

Linked Data

• ClinVar Variation Id: 714806
• ClinVar RCV Id: RCV001811535 ; RCV000887175
• dbSNP Id: rs200111236
• ExAC: X:153762678 G / A
• gnomAD v2: X-153762678-G-A
• gnomAD v3: X-154534463-G-A
• gnomAD v4: X-154534463-G-A
• COSMIC: COSM6289696 ; COSM6289697 ; COSM6289698
• MyVariant Identifiers: chrX:g.153762678G>A (hg19) ; chrX:g.154534463G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154534463G>A , CM000685.2:g.154534463G>A	GRCh38
NC_000023.10:g.153762678G>A , CM000685.1:g.153762678G>A	GRCh37
NC_000023.9:g.153415872G>A	NCBI36
NG_009015.2:g.18110C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393564.7:c.519C>T	ENSP00000377194.2:p.Phe173=
ENST00000439227.6:c.522C>T	ENSP00000395599.2:p.Phe174=
ENST00000696420.1:c.519C>T	ENSP00000512615.1:p.Phe173=
ENST00000696421.1:c.519C>T	ENSP00000512616.1:p.Phe173=
ENST00000696422.1:c.382C>T
ENST00000696423.1:c.385C>T
ENST00000696424.1:c.399C>T	ENSP00000512619.1:p.Phe133=
ENST00000696425.1:c.519C>T	ENSP00000512620.1:p.Phe173=
ENST00000696426.1:c.519C>T	ENSP00000512621.1:p.Phe173=
ENST00000696427.1:c.519C>T	ENSP00000512622.1:p.Phe173=
ENST00000696428.1:c.*361C>T	ENSP00000512623.1:n.*361C>T
ENST00000696429.1:c.519C>T	ENSP00000512624.1:p.Phe173=
ENST00000696430.1:c.519C>T	ENSP00000512625.1:p.Phe173=
ENST00000393562.10:c.519C>T MANE Select	ENSP00000377192.3:p.Phe173=
ENST00000369620.6:c.519C>T	ENSP00000358633.2:p.Phe173=
ENST00000393562.6:c.609C>T	ENSP00000377192.2:p.Phe203=
ENST00000393564.6:c.519C>T	ENSP00000377194.2:p.Phe173=
ENST00000433845.1:c.519C>T	ENSP00000394690.1:p.Phe173=
ENST00000439227.5:c.522C>T	ENSP00000395599.1:p.Phe174=
ENST00000440967.5:c.522C>T	ENSP00000400648.1:p.Phe174=
ENST00000621232.4:c.519C>T	ENSP00000483686.1:p.Phe173=
NM_000402.4:c.609C>T	NP_000393.4:p.Phe203=
NM_001042351.2:c.519C>T	NP_001035810.1:p.Phe173=
XM_005274657.2:c.612C>T	XP_005274714.1:p.Phe204=
XM_005274658.2:c.522C>T	XP_005274715.1:p.Phe174=
XM_011531132.1:c.612C>T	XP_011529434.1:p.Phe204=
NM_001360016.2:c.519C>T MANE Select	NP_001346945.1:p.Phe173=
NM_001042351.3:c.519C>T	NP_001035810.1:p.Phe173=