Canonical Allele Identifier: CA415234182

Gene: G6PD

Linked Data

• dbSNP Id: rs1359222355
• gnomAD v2: X-153760948-T-A
• gnomAD v3: X-154532733-T-A
• gnomAD v4: X-154532733-T-A
• MyVariant Identifiers: chrX:g.153760948T>A (hg19) ; chrX:g.154532733T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154532733T>A , CM000685.2:g.154532733T>A	GRCh38
NC_000023.10:g.153760948T>A , CM000685.1:g.153760948T>A	GRCh37
NC_000023.9:g.153414142T>A	NCBI36
NG_009015.2:g.19840A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393564.7:c.1121A>T	ENSP00000377194.2:p.His374Leu
ENST00000439227.6:c.1124A>T	ENSP00000395599.2:p.His375Leu
ENST00000696420.1:c.1121A>T	ENSP00000512615.1:p.His374Leu
ENST00000696421.1:c.1121A>T	ENSP00000512616.1:p.His374Leu
ENST00000696422.1:c.984A>T
ENST00000696423.1:c.987A>T
ENST00000696424.1:c.973A>T	ENSP00000512619.1:n.973A>T
ENST00000696425.1:c.*34A>T	ENSP00000512620.1:n.*34A>T
ENST00000696426.1:c.*581A>T	ENSP00000512621.1:n.*581A>T
ENST00000696427.1:c.*81A>T	ENSP00000512622.1:n.*81A>T
ENST00000696428.1:c.*963A>T	ENSP00000512623.1:n.*963A>T
ENST00000696429.1:c.1121A>T	ENSP00000512624.1:p.His374Leu
ENST00000696430.1:c.1121A>T	ENSP00000512625.1:p.His374Leu
ENST00000393562.10:c.1121A>T MANE Select	ENSP00000377192.3:p.His374Leu
ENST00000369620.6:c.1259A>T	ENSP00000358633.2:p.His420Leu
ENST00000393562.6:c.1211A>T	ENSP00000377192.2:p.His404Leu
ENST00000393564.6:c.1121A>T	ENSP00000377194.2:p.His374Leu
ENST00000490651.1:n.342A>T
ENST00000621232.4:c.1121A>T	ENSP00000483686.1:p.His374Leu
NM_000402.4:c.1211A>T	NP_000393.4:p.His404Leu
NM_001042351.2:c.1121A>T	NP_001035810.1:p.His374Leu
XM_005274657.2:c.1214A>T	XP_005274714.1:p.His405Leu
XM_005274658.2:c.1124A>T	XP_005274715.1:p.His375Leu
XM_011531132.1:c.*34A>T	XP_011529434.1:n.*34A>T
NM_001360016.2:c.1121A>T MANE Select	NP_001346945.1:p.His374Leu
NM_001042351.3:c.1121A>T	NP_001035810.1:p.His374Leu