Canonical Allele Identifier: CA415233708

Gene: G6PD

Linked Data

• dbSNP Id: rs782026927
• gnomAD v2: X-153760641-G-C
• gnomAD v4: X-154532426-G-C
• MyVariant Identifiers: chrX:g.153760641G>C (hg19) ; chrX:g.154532426G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154532426G>C , CM000685.2:g.154532426G>C	GRCh38
NC_000023.10:g.153760641G>C , CM000685.1:g.153760641G>C	GRCh37
NC_000023.9:g.153413835G>C	NCBI36
NG_009015.2:g.20147C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393564.7:c.1324C>G	ENSP00000377194.2:p.Leu442Val
ENST00000439227.6:c.1327C>G	ENSP00000395599.2:p.Leu443Val
ENST00000696420.1:c.1324C>G	ENSP00000512615.1:p.Leu442Val
ENST00000696421.1:c.1324C>G	ENSP00000512616.1:p.Leu442Val
ENST00000696422.1:c.1187C>G
ENST00000696423.1:c.1190C>G
ENST00000696424.1:c.1176C>G	ENSP00000512619.1:n.1176C>G
ENST00000696425.1:c.*237C>G	ENSP00000512620.1:n.*237C>G
ENST00000696426.1:c.*784C>G	ENSP00000512621.1:n.*784C>G
ENST00000696427.1:c.*284C>G	ENSP00000512622.1:n.*284C>G
ENST00000696428.1:c.*1166C>G	ENSP00000512623.1:n.*1166C>G
ENST00000696429.1:c.1324C>G	ENSP00000512624.1:p.Leu442Val
ENST00000696430.1:c.1324C>G	ENSP00000512625.1:p.Leu442Val
ENST00000393562.10:c.1324C>G MANE Select	ENSP00000377192.3:p.Leu442Val
ENST00000369620.6:c.1462C>G	ENSP00000358633.2:p.Leu488Val
ENST00000393562.6:c.1414C>G	ENSP00000377192.2:p.Leu472Val
ENST00000393564.6:c.1324C>G	ENSP00000377194.2:p.Leu442Val
ENST00000490651.1:n.545C>G
ENST00000621232.4:c.1324C>G	ENSP00000483686.1:p.Leu442Val
NM_000402.4:c.1414C>G	NP_000393.4:p.Leu472Val
NM_001042351.2:c.1324C>G	NP_001035810.1:p.Leu442Val
XM_005274657.2:c.1417C>G	XP_005274714.1:p.Leu473Val
XM_005274658.2:c.1327C>G	XP_005274715.1:p.Leu443Val
NM_001360016.2:c.1324C>G MANE Select	NP_001346945.1:p.Leu442Val
NM_001042351.3:c.1324C>G	NP_001035810.1:p.Leu442Val