Canonical Allele Identifier: CA10566055

Gene: G6PD

Linked Data

• dbSNP Id: rs781930186
• ExAC: X:153760734 C / T
• gnomAD v2: X-153760734-C-T
• gnomAD v3: X-154532519-C-T
• gnomAD v4: X-154532519-C-T
• MyVariant Identifiers: chrX:g.153760734C>T (hg19) ; chrX:g.154532519C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154532519C>T , CM000685.2:g.154532519C>T	GRCh38
NC_000023.10:g.153760734C>T , CM000685.1:g.153760734C>T	GRCh37
NC_000023.9:g.153413928C>T	NCBI36
NG_009015.2:g.20054G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393564.7:c.1287+48G>A	ENSP00000377194.2:n.1287+48G>A
ENST00000439227.6:c.1290+48G>A	ENSP00000395599.2:n.1290+48G>A
ENST00000696420.1:c.1287+48G>A	ENSP00000512615.1:n.1287+48G>A
ENST00000696421.1:c.1287+48G>A	ENSP00000512616.1:n.1287+48G>A
ENST00000696422.1:c.1150+48G>A
ENST00000696423.1:c.1153+48G>A
ENST00000696424.1:c.1139+48G>A	ENSP00000512619.1:n.1139+48G>A
ENST00000696425.1:c.*200+48G>A	ENSP00000512620.1:n.*200+48G>A
ENST00000696426.1:c.*747+48G>A	ENSP00000512621.1:n.*747+48G>A
ENST00000696427.1:c.*247+48G>A	ENSP00000512622.1:n.*247+48G>A
ENST00000696428.1:c.*1129+48G>A	ENSP00000512623.1:n.*1129+48G>A
ENST00000696429.1:c.1287+48G>A	ENSP00000512624.1:n.1287+48G>A
ENST00000696430.1:c.1287+48G>A	ENSP00000512625.1:n.1287+48G>A
ENST00000393562.10:c.1287+48G>A MANE Select	ENSP00000377192.3:n.1287+48G>A
ENST00000369620.6:c.1425+48G>A	ENSP00000358633.2:n.1425+48G>A
ENST00000393562.6:c.1377+48G>A	ENSP00000377192.2:n.1377+48G>A
ENST00000393564.6:c.1287+48G>A	ENSP00000377194.2:n.1287+48G>A
ENST00000490651.1:n.508+48G>A
ENST00000621232.4:c.1287+48G>A	ENSP00000483686.1:n.1287+48G>A
NM_000402.4:c.1377+48G>A	NP_000393.4:n.1377+48G>A
NM_001042351.2:c.1287+48G>A	NP_001035810.1:n.1287+48G>A
XM_005274657.2:c.1380+48G>A	XP_005274714.1:n.1380+48G>A
XM_005274658.2:c.1290+48G>A	XP_005274715.1:n.1290+48G>A
NM_001360016.2:c.1287+48G>A MANE Select	NP_001346945.1:n.1287+48G>A
NM_001042351.3:c.1287+48G>A	NP_001035810.1:n.1287+48G>A