Canonical Allele Identifier: CA120992

Gene: G6PD

Linked Data

• ClinVar Variation Id: 10388
• ClinVar RCV Id: RCV000011119 ; RCV000757319 ; RCV000818410 ; RCV003460453 ; RCV003934822
• dbSNP Id: rs76723693
• ExAC: X:153761240 A / G
• gnomAD v2: X-153761240-A-G
• gnomAD v3: X-154533025-A-G
• gnomAD v4: X-154533025-A-G
• MyVariant Identifiers: chrX:g.153761240A>G (hg19) ; chrX:g.154533025A>G (hg38)
• PubMed: PMID:2836867 ; PMID:23891399

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154533025A>G , CM000685.2:g.154533025A>G	GRCh38
NC_000023.10:g.153761240A>G , CM000685.1:g.153761240A>G	GRCh37
NC_000023.9:g.153414434A>G	NCBI36
NG_009015.2:g.19548T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393564.7:c.968T>C	ENSP00000377194.2:p.Leu323Pro
ENST00000439227.6:c.971T>C	ENSP00000395599.2:p.Leu324Pro
ENST00000696420.1:c.968T>C	ENSP00000512615.1:p.Leu323Pro
ENST00000696421.1:c.968T>C	ENSP00000512616.1:p.Leu323Pro
ENST00000696422.1:c.831T>C
ENST00000696423.1:c.834T>C
ENST00000696424.1:c.820T>C	ENSP00000512619.1:n.820T>C
ENST00000696425.1:c.865-223T>C	ENSP00000512620.1:n.865-223T>C
ENST00000696426.1:c.*428T>C	ENSP00000512621.1:n.*428T>C
ENST00000696427.1:c.975T>C	ENSP00000512622.1:p.Pro325=
ENST00000696428.1:c.*810T>C	ENSP00000512623.1:n.*810T>C
ENST00000696429.1:c.968T>C	ENSP00000512624.1:p.Leu323Pro
ENST00000696430.1:c.968T>C	ENSP00000512625.1:p.Leu323Pro
ENST00000393562.10:c.968T>C MANE Select	ENSP00000377192.3:p.Leu323Pro
ENST00000369620.6:c.1106T>C	ENSP00000358633.2:p.Leu369Pro
ENST00000393562.6:c.1058T>C	ENSP00000377192.2:p.Leu353Pro
ENST00000393564.6:c.968T>C	ENSP00000377194.2:p.Leu323Pro
ENST00000439227.5:c.971T>C	ENSP00000395599.1:p.Leu324Pro
ENST00000490651.1:n.50T>C
ENST00000621232.4:c.968T>C	ENSP00000483686.1:p.Leu323Pro
NM_000402.4:c.1058T>C	NP_000393.4:p.Leu353Pro
NM_001042351.2:c.968T>C	NP_001035810.1:p.Leu323Pro
XM_005274657.2:c.1061T>C	XP_005274714.1:p.Leu354Pro
XM_005274658.2:c.971T>C	XP_005274715.1:p.Leu324Pro
XM_011531132.1:c.958-223T>C	XP_011529434.1:n.958-223T>C
NM_001360016.2:c.968T>C MANE Select	NP_001346945.1:p.Leu323Pro
NM_001042351.3:c.968T>C	NP_001035810.1:p.Leu323Pro