Canonical Allele Identifier: CA415231829

Gene: G6PD

Linked Data

• MyVariant Identifiers: chrX:g.153760239C>A (hg19) ; chrX:g.154532024C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154532024C>A , CM000685.2:g.154532024C>A	GRCh38
NC_000023.10:g.153760239C>A , CM000685.1:g.153760239C>A	GRCh37
NC_000023.9:g.153413433C>A	NCBI36
NG_009015.2:g.20549G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393564.7:c.1524G>T	ENSP00000377194.2:p.Lys508Asn
ENST00000439227.6:c.1527G>T	ENSP00000395599.2:p.Lys509Asn
ENST00000696420.1:c.1457+164G>T	ENSP00000512615.1:n.1457+164G>T
ENST00000696421.1:c.1457+164G>T	ENSP00000512616.1:n.1457+164G>T
ENST00000696422.1:c.1387G>T
ENST00000696423.1:c.1390G>T
ENST00000696424.1:c.1376G>T	ENSP00000512619.1:n.1376G>T
ENST00000696425.1:c.*437G>T	ENSP00000512620.1:n.*437G>T
ENST00000696426.1:c.*984G>T	ENSP00000512621.1:n.*984G>T
ENST00000696427.1:c.*484G>T	ENSP00000512622.1:n.*484G>T
ENST00000696428.1:c.*1366G>T	ENSP00000512623.1:n.*1366G>T
ENST00000696429.1:c.1524G>T	ENSP00000512624.1:p.Lys508Asn
ENST00000696430.1:c.1524G>T	ENSP00000512625.1:p.Lys508Asn
ENST00000393562.10:c.1524G>T MANE Select	ENSP00000377192.3:p.Lys508Asn
ENST00000369620.6:c.1662G>T	ENSP00000358633.2:p.Lys554Asn
ENST00000393562.6:c.1614G>T	ENSP00000377192.2:p.Lys538Asn
ENST00000393564.6:c.1524G>T	ENSP00000377194.2:p.Lys508Asn
ENST00000621232.4:c.1524G>T	ENSP00000483686.1:p.Lys508Asn
NM_000402.4:c.1614G>T	NP_000393.4:p.Lys538Asn
NM_001042351.2:c.1524G>T	NP_001035810.1:p.Lys508Asn
XM_005274657.2:c.1617G>T	XP_005274714.1:p.Lys539Asn
XM_005274658.2:c.1527G>T	XP_005274715.1:p.Lys509Asn
NM_001360016.2:c.1524G>T MANE Select	NP_001346945.1:p.Lys508Asn
NM_001042351.3:c.1524G>T	NP_001035810.1:p.Lys508Asn