Canonical Allele Identifier: CA415232344

Gene: G6PD

Linked Data

• gnomAD v3: X-154532206-A-G
• gnomAD v4: X-154532206-A-G
• MyVariant Identifiers: chrX:g.153760421A>G (hg19) ; chrX:g.154532206A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154532206A>G , CM000685.2:g.154532206A>G	GRCh38
NC_000023.10:g.153760421A>G , CM000685.1:g.153760421A>G	GRCh37
NC_000023.9:g.153413615A>G	NCBI36
NG_009015.2:g.20367T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393564.7:c.1439T>C	ENSP00000377194.2:p.Ile480Thr
ENST00000439227.6:c.1442T>C	ENSP00000395599.2:p.Ile481Thr
ENST00000696420.1:c.1439T>C	ENSP00000512615.1:p.Ile480Thr
ENST00000696421.1:c.1439T>C	ENSP00000512616.1:p.Ile480Thr
ENST00000696422.1:c.1302T>C
ENST00000696423.1:c.1305T>C
ENST00000696424.1:c.1291T>C	ENSP00000512619.1:n.1291T>C
ENST00000696425.1:c.*352T>C	ENSP00000512620.1:n.*352T>C
ENST00000696426.1:c.*899T>C	ENSP00000512621.1:n.*899T>C
ENST00000696427.1:c.*399T>C	ENSP00000512622.1:n.*399T>C
ENST00000696428.1:c.*1281T>C	ENSP00000512623.1:n.*1281T>C
ENST00000696429.1:c.1439T>C	ENSP00000512624.1:p.Ile480Thr
ENST00000696430.1:c.1439T>C	ENSP00000512625.1:p.Ile480Thr
ENST00000393562.10:c.1439T>C MANE Select	ENSP00000377192.3:p.Ile480Thr
ENST00000369620.6:c.1577T>C	ENSP00000358633.2:p.Ile526Thr
ENST00000393562.6:c.1529T>C	ENSP00000377192.2:p.Ile510Thr
ENST00000393564.6:c.1439T>C	ENSP00000377194.2:p.Ile480Thr
ENST00000490651.1:n.660T>C
ENST00000621232.4:c.1439T>C	ENSP00000483686.1:p.Ile480Thr
NM_000402.4:c.1529T>C	NP_000393.4:p.Ile510Thr
NM_001042351.2:c.1439T>C	NP_001035810.1:p.Ile480Thr
XM_005274657.2:c.1532T>C	XP_005274714.1:p.Ile511Thr
XM_005274658.2:c.1442T>C	XP_005274715.1:p.Ile481Thr
NM_001360016.2:c.1439T>C MANE Select	NP_001346945.1:p.Ile480Thr
NM_001042351.3:c.1439T>C	NP_001035810.1:p.Ile480Thr