Canonical Allele Identifier: CA519303749

Gene: G6PD

Linked Data

• dbSNP Id: rs1378164964
• gnomAD v4: X-154533108-G-A
• MyVariant Identifiers: chrX:g.153761323G>A (hg19) ; chrX:g.154533108G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154533108G>A , CM000685.2:g.154533108G>A	GRCh38
NC_000023.10:g.153761323G>A , CM000685.1:g.153761323G>A	GRCh37
NC_000023.9:g.153414517G>A	NCBI36
NG_009015.2:g.19465C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393564.7:c.885C>T	ENSP00000377194.2:p.Ile295=
ENST00000439227.6:c.888C>T	ENSP00000395599.2:p.Ile296=
ENST00000696420.1:c.885C>T	ENSP00000512615.1:p.Ile295=
ENST00000696421.1:c.885C>T	ENSP00000512616.1:p.Ile295=
ENST00000696422.1:c.748C>T
ENST00000696423.1:c.751C>T
ENST00000696424.1:c.737C>T	ENSP00000512619.1:n.737C>T
ENST00000696425.1:c.865-306C>T	ENSP00000512620.1:n.865-306C>T
ENST00000696426.1:c.*345C>T	ENSP00000512621.1:n.*345C>T
ENST00000696427.1:c.892C>T	ENSP00000512622.1:p.Leu298Phe
ENST00000696428.1:c.*727C>T	ENSP00000512623.1:n.*727C>T
ENST00000696429.1:c.885C>T	ENSP00000512624.1:p.Ile295=
ENST00000696430.1:c.885C>T	ENSP00000512625.1:p.Ile295=
ENST00000393562.10:c.885C>T MANE Select	ENSP00000377192.3:p.Ile295=
ENST00000369620.6:c.1023C>T	ENSP00000358633.2:p.Ile341=
ENST00000393562.6:c.975C>T	ENSP00000377192.2:p.Ile325=
ENST00000393564.6:c.885C>T	ENSP00000377194.2:p.Ile295=
ENST00000439227.5:c.888C>T	ENSP00000395599.1:p.Ile296=
ENST00000440967.5:c.888C>T	ENSP00000400648.1:p.Ile296=
ENST00000621232.4:c.885C>T	ENSP00000483686.1:p.Ile295=
NM_000402.4:c.975C>T	NP_000393.4:p.Ile325=
NM_001042351.2:c.885C>T	NP_001035810.1:p.Ile295=
XM_005274657.2:c.978C>T	XP_005274714.1:p.Ile326=
XM_005274658.2:c.888C>T	XP_005274715.1:p.Ile296=
XM_011531132.1:c.958-306C>T	XP_011529434.1:n.958-306C>T
NM_001360016.2:c.885C>T MANE Select	NP_001346945.1:p.Ile295=
NM_001042351.3:c.885C>T	NP_001035810.1:p.Ile295=