Canonical Allele Identifier: CA2842588520

Gene: G6PD

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154533504C>A , CM000685.2:g.154533504C>A	GRCh38
NC_000023.10:g.153761719C>A , CM000685.1:g.153761719C>A	GRCh37
NC_000023.9:g.153414913C>A	NCBI36
NG_009015.2:g.19069G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393564.7:c.864+72G>T	ENSP00000377194.2:n.864+72G>T
ENST00000439227.6:c.867+72G>T	ENSP00000395599.2:n.867+72G>T
ENST00000696420.1:c.864+72G>T	ENSP00000512615.1:n.864+72G>T
ENST00000696421.1:c.864+72G>T	ENSP00000512616.1:n.864+72G>T
ENST00000696422.1:c.727+72G>T
ENST00000696423.1:c.730+72G>T
ENST00000696424.1:c.716+72G>T	ENSP00000512619.1:n.716+72G>T
ENST00000696425.1:c.864+72G>T	ENSP00000512620.1:n.864+72G>T
ENST00000696426.1:c.865-13G>T	ENSP00000512621.1:n.865-13G>T
ENST00000696427.1:c.871+65G>T	ENSP00000512622.1:n.871+65G>T
ENST00000696428.1:c.*706+72G>T	ENSP00000512623.1:n.*706+72G>T
ENST00000696429.1:c.864+72G>T	ENSP00000512624.1:n.864+72G>T
ENST00000696430.1:c.864+72G>T	ENSP00000512625.1:n.864+72G>T
ENST00000393562.10:c.864+72G>T MANE Select	ENSP00000377192.3:n.864+72G>T
ENST00000369620.6:c.1002+72G>T	ENSP00000358633.2:n.1002+72G>T
ENST00000393562.6:c.954+72G>T	ENSP00000377192.2:n.954+72G>T
ENST00000393564.6:c.864+72G>T	ENSP00000377194.2:n.864+72G>T
ENST00000439227.5:c.867+72G>T	ENSP00000395599.1:n.867+72G>T
ENST00000440967.5:c.867+72G>T	ENSP00000400648.1:n.867+72G>T
ENST00000489497.1:n.325G>T
ENST00000621232.4:c.864+72G>T	ENSP00000483686.1:n.864+72G>T
NM_000402.4:c.954+72G>T	NP_000393.4:n.954+72G>T
NM_001042351.2:c.864+72G>T	NP_001035810.1:n.864+72G>T
XM_005274657.2:c.957+72G>T	XP_005274714.1:n.957+72G>T
XM_005274658.2:c.867+72G>T	XP_005274715.1:n.867+72G>T
XM_011531132.1:c.957+72G>T	XP_011529434.1:n.957+72G>T
NM_001360016.2:c.864+72G>T MANE Select	NP_001346945.1:n.864+72G>T
NM_001042351.3:c.864+72G>T	NP_001035810.1:n.864+72G>T