Canonical Allele Identifier: CA2695139661

Gene: G6PD

Linked Data

• gnomAD v4: X-154531483-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154531483G>T , CM000685.2:g.154531483G>T	GRCh38
NC_000023.10:g.153759698G>T , CM000685.1:g.153759698G>T	GRCh37
NC_000023.9:g.153412892G>T	NCBI36
NG_009015.2:g.21090C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393564.7:c.*517C>A	ENSP00000377194.2:n.*517C>A
ENST00000439227.6:c.*517C>A	ENSP00000395599.2:n.*517C>A
ENST00000696420.1:c.1457+705C>A	ENSP00000512615.1:n.1457+705C>A
ENST00000696421.1:c.1457+705C>A	ENSP00000512616.1:n.1457+705C>A
ENST00000696422.1:c.1928C>A
ENST00000696423.1:c.1931C>A
ENST00000696424.1:c.1917C>A	ENSP00000512619.1:n.1917C>A
ENST00000696425.1:c.*978C>A	ENSP00000512620.1:n.*978C>A
ENST00000696426.1:c.*1525C>A	ENSP00000512621.1:n.*1525C>A
ENST00000696427.1:c.*1025C>A	ENSP00000512622.1:n.*1025C>A
ENST00000696428.1:c.*1907C>A	ENSP00000512623.1:n.*1907C>A
ENST00000696429.1:c.*517C>A	ENSP00000512624.1:n.*517C>A
ENST00000696430.1:c.*517C>A	ENSP00000512625.1:n.*517C>A
ENST00000393562.10:c.*517C>A MANE Select	ENSP00000377192.3:n.*517C>A
ENST00000393562.6:c.*517C>A	ENSP00000377192.2:n.*517C>A
ENST00000621232.4:c.*517C>A	ENSP00000483686.1:n.*517C>A
NM_000402.4:c.*517C>A	NP_000393.4:n.*517C>A
NM_001042351.2:c.*517C>A	NP_001035810.1:n.*517C>A
XM_005274657.2:c.*517C>A	XP_005274714.1:n.*517C>A
XM_005274658.2:c.*517C>A	XP_005274715.1:n.*517C>A
NM_001360016.2:c.*517C>A MANE Select	NP_001346945.1:n.*517C>A
NM_001042351.3:c.*517C>A	NP_001035810.1:n.*517C>A