Canonical Allele Identifier: CA415235046

Gene: G6PD

Linked Data

• MyVariant Identifiers: chrX:g.153761791C>G (hg19) ; chrX:g.154533576C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154533576C>G , CM000685.2:g.154533576C>G	GRCh38
NC_000023.10:g.153761791C>G , CM000685.1:g.153761791C>G	GRCh37
NC_000023.9:g.153414985C>G	NCBI36
NG_009015.2:g.18997G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393564.7:c.864G>C	ENSP00000377194.2:p.Lys288Asn
ENST00000439227.6:c.867G>C	ENSP00000395599.2:p.Lys289Asn
ENST00000696420.1:c.864G>C	ENSP00000512615.1:p.Lys288Asn
ENST00000696421.1:c.864G>C	ENSP00000512616.1:p.Lys288Asn
ENST00000696422.1:c.727G>C
ENST00000696423.1:c.730G>C
ENST00000696424.1:c.716G>C	ENSP00000512619.1:p.Arg239Thr
ENST00000696425.1:c.864G>C	ENSP00000512620.1:p.Lys288Asn
ENST00000696426.1:c.864G>C	ENSP00000512621.1:p.Lys288Asn
ENST00000696427.1:c.864G>C	ENSP00000512622.1:p.Lys288Asn
ENST00000696428.1:c.*706G>C	ENSP00000512623.1:n.*706G>C
ENST00000696429.1:c.864G>C	ENSP00000512624.1:p.Lys288Asn
ENST00000696430.1:c.864G>C	ENSP00000512625.1:p.Lys288Asn
ENST00000393562.10:c.864G>C MANE Select	ENSP00000377192.3:p.Lys288Asn
ENST00000369620.6:c.1002G>C	ENSP00000358633.2:p.Lys334Asn
ENST00000393562.6:c.954G>C	ENSP00000377192.2:p.Lys318Asn
ENST00000393564.6:c.864G>C	ENSP00000377194.2:p.Lys288Asn
ENST00000439227.5:c.867G>C	ENSP00000395599.1:p.Lys289Asn
ENST00000440967.5:c.867G>C	ENSP00000400648.1:p.Lys289Asn
ENST00000489497.1:n.253G>C
ENST00000621232.4:c.864G>C	ENSP00000483686.1:p.Lys288Asn
NM_000402.4:c.954G>C	NP_000393.4:p.Lys318Asn
NM_001042351.2:c.864G>C	NP_001035810.1:p.Lys288Asn
XM_005274657.2:c.957G>C	XP_005274714.1:p.Lys319Asn
XM_005274658.2:c.867G>C	XP_005274715.1:p.Lys289Asn
XM_011531132.1:c.957G>C	XP_011529434.1:p.Lys319Asn
NM_001360016.2:c.864G>C MANE Select	NP_001346945.1:p.Lys288Asn
NM_001042351.3:c.864G>C	NP_001035810.1:p.Lys288Asn