Canonical Allele Identifier: CA2842588523

Gene: G6PD

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154533554G>T , CM000685.2:g.154533554G>T	GRCh38
NC_000023.10:g.153761769G>T , CM000685.1:g.153761769G>T	GRCh37
NC_000023.9:g.153414963G>T	NCBI36
NG_009015.2:g.19019C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393564.7:c.864+22C>A	ENSP00000377194.2:n.864+22C>A
ENST00000439227.6:c.867+22C>A	ENSP00000395599.2:n.867+22C>A
ENST00000696420.1:c.864+22C>A	ENSP00000512615.1:n.864+22C>A
ENST00000696421.1:c.864+22C>A	ENSP00000512616.1:n.864+22C>A
ENST00000696422.1:c.727+22C>A
ENST00000696423.1:c.730+22C>A
ENST00000696424.1:c.716+22C>A	ENSP00000512619.1:n.716+22C>A
ENST00000696425.1:c.864+22C>A	ENSP00000512620.1:n.864+22C>A
ENST00000696426.1:c.864+22C>A	ENSP00000512621.1:n.864+22C>A
ENST00000696427.1:c.871+15C>A	ENSP00000512622.1:n.871+15C>A
ENST00000696428.1:c.*706+22C>A	ENSP00000512623.1:n.*706+22C>A
ENST00000696429.1:c.864+22C>A	ENSP00000512624.1:n.864+22C>A
ENST00000696430.1:c.864+22C>A	ENSP00000512625.1:n.864+22C>A
ENST00000393562.10:c.864+22C>A MANE Select	ENSP00000377192.3:n.864+22C>A
ENST00000369620.6:c.1002+22C>A	ENSP00000358633.2:n.1002+22C>A
ENST00000393562.6:c.954+22C>A	ENSP00000377192.2:n.954+22C>A
ENST00000393564.6:c.864+22C>A	ENSP00000377194.2:n.864+22C>A
ENST00000439227.5:c.867+22C>A	ENSP00000395599.1:n.867+22C>A
ENST00000440967.5:c.867+22C>A	ENSP00000400648.1:n.867+22C>A
ENST00000489497.1:n.275C>A
ENST00000621232.4:c.864+22C>A	ENSP00000483686.1:n.864+22C>A
NM_000402.4:c.954+22C>A	NP_000393.4:n.954+22C>A
NM_001042351.2:c.864+22C>A	NP_001035810.1:n.864+22C>A
XM_005274657.2:c.957+22C>A	XP_005274714.1:n.957+22C>A
XM_005274658.2:c.867+22C>A	XP_005274715.1:n.867+22C>A
XM_011531132.1:c.957+22C>A	XP_011529434.1:n.957+22C>A
NM_001360016.2:c.864+22C>A MANE Select	NP_001346945.1:n.864+22C>A
NM_001042351.3:c.864+22C>A	NP_001035810.1:n.864+22C>A