Canonical Allele Identifier: CA415233800

Gene: G6PD

Linked Data

• MyVariant Identifiers: chrX:g.153760782C>A (hg19) ; chrX:g.154532567C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154532567C>A , CM000685.2:g.154532567C>A	GRCh38
NC_000023.10:g.153760782C>A , CM000685.1:g.153760782C>A	GRCh37
NC_000023.9:g.153413976C>A	NCBI36
NG_009015.2:g.20006G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000393564.7:c.1287G>T	ENSP00000377194.2:p.Lys429Asn
ENST00000439227.6:c.1290G>T	ENSP00000395599.2:p.Lys430Asn
ENST00000696420.1:c.1287G>T	ENSP00000512615.1:p.Lys429Asn
ENST00000696421.1:c.1287G>T	ENSP00000512616.1:p.Lys429Asn
ENST00000696422.1:c.1150G>T
ENST00000696423.1:c.1153G>T
ENST00000696424.1:c.1139G>T	ENSP00000512619.1:n.1139G>T
ENST00000696425.1:c.*200G>T	ENSP00000512620.1:n.*200G>T
ENST00000696426.1:c.*747G>T	ENSP00000512621.1:n.*747G>T
ENST00000696427.1:c.*247G>T	ENSP00000512622.1:n.*247G>T
ENST00000696428.1:c.*1129G>T	ENSP00000512623.1:n.*1129G>T
ENST00000696429.1:c.1287G>T	ENSP00000512624.1:p.Lys429Asn
ENST00000696430.1:c.1287G>T	ENSP00000512625.1:p.Lys429Asn
ENST00000393562.10:c.1287G>T MANE Select	ENSP00000377192.3:p.Lys429Asn
ENST00000369620.6:c.1425G>T	ENSP00000358633.2:p.Lys475Asn
ENST00000393562.6:c.1377G>T	ENSP00000377192.2:p.Lys459Asn
ENST00000393564.6:c.1287G>T	ENSP00000377194.2:p.Lys429Asn
ENST00000490651.1:n.508G>T
ENST00000621232.4:c.1287G>T	ENSP00000483686.1:p.Lys429Asn
NM_000402.4:c.1377G>T	NP_000393.4:p.Lys459Asn
NM_001042351.2:c.1287G>T	NP_001035810.1:p.Lys429Asn
XM_005274657.2:c.1380G>T	XP_005274714.1:p.Lys460Asn
XM_005274658.2:c.1290G>T	XP_005274715.1:p.Lys430Asn
NM_001360016.2:c.1287G>T MANE Select	NP_001346945.1:p.Lys429Asn
NM_001042351.3:c.1287G>T	NP_001035810.1:p.Lys429Asn