Canonical Allele Identifier: CA10566147

Gene: G6PD

Linked Data

• ClinVar Variation Id: 368100
• ClinVar RCV Id: RCV000308706 ; RCV003621528
• dbSNP Id: rs782622284
• ExAC: X:153761895 A / G
• gnomAD v2: X-153761895-A-G
• gnomAD v3: X-154533680-A-G
• gnomAD v4: X-154533680-A-G
• MyVariant Identifiers: chrX:g.153761895A>G (hg19) ; chrX:g.154533680A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154533680A>G , CM000685.2:g.154533680A>G	GRCh38
NC_000023.10:g.153761895A>G , CM000685.1:g.153761895A>G	GRCh37
NC_000023.9:g.153415089A>G	NCBI36
NG_009015.2:g.18893T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393564.7:c.771-11T>C	ENSP00000377194.2:n.771-11T>C
ENST00000439227.6:c.774-11T>C	ENSP00000395599.2:n.774-11T>C
ENST00000696420.1:c.771-11T>C	ENSP00000512615.1:n.771-11T>C
ENST00000696421.1:c.771-11T>C	ENSP00000512616.1:n.771-11T>C
ENST00000696422.1:c.634-11T>C
ENST00000696423.1:c.637-11T>C
ENST00000696424.1:c.651-39T>C	ENSP00000512619.1:n.651-39T>C
ENST00000696425.1:c.771-11T>C	ENSP00000512620.1:n.771-11T>C
ENST00000696426.1:c.771-11T>C	ENSP00000512621.1:n.771-11T>C
ENST00000696427.1:c.771-11T>C	ENSP00000512622.1:n.771-11T>C
ENST00000696428.1:c.*613-11T>C	ENSP00000512623.1:n.*613-11T>C
ENST00000696429.1:c.771-11T>C	ENSP00000512624.1:n.771-11T>C
ENST00000696430.1:c.771-11T>C	ENSP00000512625.1:n.771-11T>C
ENST00000393562.10:c.771-11T>C MANE Select	ENSP00000377192.3:n.771-11T>C
ENST00000369620.6:c.898T>C	ENSP00000358633.2:p.Ser300Pro
ENST00000393562.6:c.861-11T>C	ENSP00000377192.2:n.861-11T>C
ENST00000393564.6:c.771-11T>C	ENSP00000377194.2:n.771-11T>C
ENST00000439227.5:c.774-11T>C	ENSP00000395599.1:n.774-11T>C
ENST00000440967.5:c.774-11T>C	ENSP00000400648.1:n.774-11T>C
ENST00000489497.1:n.160-11T>C
ENST00000621232.4:c.771-11T>C	ENSP00000483686.1:n.771-11T>C
NM_000402.4:c.861-11T>C	NP_000393.4:n.861-11T>C
NM_001042351.2:c.771-11T>C	NP_001035810.1:n.771-11T>C
XM_005274657.2:c.864-11T>C	XP_005274714.1:n.864-11T>C
XM_005274658.2:c.774-11T>C	XP_005274715.1:n.774-11T>C
XM_011531132.1:c.864-11T>C	XP_011529434.1:n.864-11T>C
NM_001360016.2:c.771-11T>C MANE Select	NP_001346945.1:n.771-11T>C
NM_001042351.3:c.771-11T>C	NP_001035810.1:n.771-11T>C