Canonical Allele Identifier: CA10566108

Gene: G6PD

Linked Data

• ClinVar Variation Id: 2083937
• ClinVar RCV Id: RCV003009301
• dbSNP Id: rs370017540
• ExAC: X:153761261 C / T
• gnomAD v2: X-153761261-C-T
• gnomAD v3: X-154533046-C-T
• gnomAD v4: X-154533046-C-T
• MyVariant Identifiers: chrX:g.153761261C>T (hg19) ; chrX:g.154533046C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154533046C>T , CM000685.2:g.154533046C>T	GRCh38
NC_000023.10:g.153761261C>T , CM000685.1:g.153761261C>T	GRCh37
NC_000023.9:g.153414455C>T	NCBI36
NG_009015.2:g.19527G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393564.7:c.947G>A	ENSP00000377194.2:p.Gly316Asp
ENST00000439227.6:c.950G>A	ENSP00000395599.2:p.Gly317Asp
ENST00000696420.1:c.947G>A	ENSP00000512615.1:p.Gly316Asp
ENST00000696421.1:c.947G>A	ENSP00000512616.1:p.Gly316Asp
ENST00000696422.1:c.810G>A
ENST00000696423.1:c.813G>A
ENST00000696424.1:c.799G>A	ENSP00000512619.1:n.799G>A
ENST00000696425.1:c.865-244G>A	ENSP00000512620.1:n.865-244G>A
ENST00000696426.1:c.*407G>A	ENSP00000512621.1:n.*407G>A
ENST00000696427.1:c.954G>A	ENSP00000512622.1:p.Gly318=
ENST00000696428.1:c.*789G>A	ENSP00000512623.1:n.*789G>A
ENST00000696429.1:c.947G>A	ENSP00000512624.1:p.Gly316Asp
ENST00000696430.1:c.947G>A	ENSP00000512625.1:p.Gly316Asp
ENST00000393562.10:c.947G>A MANE Select	ENSP00000377192.3:p.Gly316Asp
ENST00000369620.6:c.1085G>A	ENSP00000358633.2:p.Gly362Asp
ENST00000393562.6:c.1037G>A	ENSP00000377192.2:p.Gly346Asp
ENST00000393564.6:c.947G>A	ENSP00000377194.2:p.Gly316Asp
ENST00000439227.5:c.950G>A	ENSP00000395599.1:p.Gly317Asp
ENST00000440967.5:c.950G>A	ENSP00000400648.1:p.Gly317Asp
ENST00000490651.1:n.29G>A
ENST00000621232.4:c.947G>A	ENSP00000483686.1:p.Gly316Asp
NM_000402.4:c.1037G>A	NP_000393.4:p.Gly346Asp
NM_001042351.2:c.947G>A	NP_001035810.1:p.Gly316Asp
XM_005274657.2:c.1040G>A	XP_005274714.1:p.Gly347Asp
XM_005274658.2:c.950G>A	XP_005274715.1:p.Gly317Asp
XM_011531132.1:c.958-244G>A	XP_011529434.1:n.958-244G>A
NM_001360016.2:c.947G>A MANE Select	NP_001346945.1:p.Gly316Asp
NM_001042351.3:c.947G>A	NP_001035810.1:p.Gly316Asp