Canonical Allele Identifier: CA415232549

Gene: G6PD

Linked Data

• MyVariant Identifiers: chrX:g.153760463G>T (hg19) ; chrX:g.154532248G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154532248G>T , CM000685.2:g.154532248G>T	GRCh38
NC_000023.10:g.153760463G>T , CM000685.1:g.153760463G>T	GRCh37
NC_000023.9:g.153413657G>T	NCBI36
NG_009015.2:g.20325C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000393564.7:c.1397C>A	ENSP00000377194.2:p.Thr466Asn
ENST00000439227.6:c.1400C>A	ENSP00000395599.2:p.Thr467Asn
ENST00000696420.1:c.1397C>A	ENSP00000512615.1:p.Thr466Asn
ENST00000696421.1:c.1397C>A	ENSP00000512616.1:p.Thr466Asn
ENST00000696422.1:c.1260C>A
ENST00000696423.1:c.1263C>A
ENST00000696424.1:c.1249C>A	ENSP00000512619.1:n.1249C>A
ENST00000696425.1:c.*310C>A	ENSP00000512620.1:n.*310C>A
ENST00000696426.1:c.*857C>A	ENSP00000512621.1:n.*857C>A
ENST00000696427.1:c.*357C>A	ENSP00000512622.1:n.*357C>A
ENST00000696428.1:c.*1239C>A	ENSP00000512623.1:n.*1239C>A
ENST00000696429.1:c.1397C>A	ENSP00000512624.1:p.Thr466Asn
ENST00000696430.1:c.1397C>A	ENSP00000512625.1:p.Thr466Asn
ENST00000393562.10:c.1397C>A MANE Select	ENSP00000377192.3:p.Thr466Asn
ENST00000369620.6:c.1535C>A	ENSP00000358633.2:p.Thr512Asn
ENST00000393562.6:c.1487C>A	ENSP00000377192.2:p.Thr496Asn
ENST00000393564.6:c.1397C>A	ENSP00000377194.2:p.Thr466Asn
ENST00000490651.1:n.618C>A
ENST00000621232.4:c.1397C>A	ENSP00000483686.1:p.Thr466Asn
NM_000402.4:c.1487C>A	NP_000393.4:p.Thr496Asn
NM_001042351.2:c.1397C>A	NP_001035810.1:p.Thr466Asn
XM_005274657.2:c.1490C>A	XP_005274714.1:p.Thr497Asn
XM_005274658.2:c.1400C>A	XP_005274715.1:p.Thr467Asn
NM_001360016.2:c.1397C>A MANE Select	NP_001346945.1:p.Thr466Asn
NM_001042351.3:c.1397C>A	NP_001035810.1:p.Thr466Asn