Canonical Allele Identifier: CA415234955

Gene: G6PD

Linked Data

• dbSNP Id: rs1557229926
• gnomAD v2: X-153761338-C-G
• MyVariant Identifiers: chrX:g.153761338C>G (hg19) ; chrX:g.154533123C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154533123C>G , CM000685.2:g.154533123C>G	GRCh38
NC_000023.10:g.153761338C>G , CM000685.1:g.153761338C>G	GRCh37
NC_000023.9:g.153414532C>G	NCBI36
NG_009015.2:g.19450G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000393564.7:c.870G>C	ENSP00000377194.2:p.Lys290Asn
ENST00000439227.6:c.873G>C	ENSP00000395599.2:p.Lys291Asn
ENST00000696420.1:c.870G>C	ENSP00000512615.1:p.Lys290Asn
ENST00000696421.1:c.870G>C	ENSP00000512616.1:p.Lys290Asn
ENST00000696422.1:c.733G>C
ENST00000696423.1:c.736G>C
ENST00000696424.1:c.722G>C	ENSP00000512619.1:p.Arg241Thr
ENST00000696425.1:c.865-321G>C	ENSP00000512620.1:n.865-321G>C
ENST00000696426.1:c.*330G>C	ENSP00000512621.1:n.*330G>C
ENST00000696427.1:c.877G>C	ENSP00000512622.1:p.Gly293Arg
ENST00000696428.1:c.*712G>C	ENSP00000512623.1:n.*712G>C
ENST00000696429.1:c.870G>C	ENSP00000512624.1:p.Lys290Asn
ENST00000696430.1:c.870G>C	ENSP00000512625.1:p.Lys290Asn
ENST00000393562.10:c.870G>C MANE Select	ENSP00000377192.3:p.Lys290Asn
ENST00000369620.6:c.1008G>C	ENSP00000358633.2:p.Lys336Asn
ENST00000393562.6:c.960G>C	ENSP00000377192.2:p.Lys320Asn
ENST00000393564.6:c.870G>C	ENSP00000377194.2:p.Lys290Asn
ENST00000439227.5:c.873G>C	ENSP00000395599.1:p.Lys291Asn
ENST00000440967.5:c.873G>C	ENSP00000400648.1:p.Lys291Asn
ENST00000621232.4:c.870G>C	ENSP00000483686.1:p.Lys290Asn
NM_000402.4:c.960G>C	NP_000393.4:p.Lys320Asn
NM_001042351.2:c.870G>C	NP_001035810.1:p.Lys290Asn
XM_005274657.2:c.963G>C	XP_005274714.1:p.Lys321Asn
XM_005274658.2:c.873G>C	XP_005274715.1:p.Lys291Asn
XM_011531132.1:c.958-321G>C	XP_011529434.1:n.958-321G>C
NM_001360016.2:c.870G>C MANE Select	NP_001346945.1:p.Lys290Asn
NM_001042351.3:c.870G>C	NP_001035810.1:p.Lys290Asn