Canonical Allele Identifier: CA645291567

Gene: G6PD

Linked Data

• dbSNP Id: rs1485811985
• gnomAD v2: X-153761661-G-A
• gnomAD v3: X-154533446-G-A
• gnomAD v4: X-154533446-G-A
• MyVariant Identifiers: chrX:g.153761661G>A (hg19) ; chrX:g.154533446G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154533446G>A , CM000685.2:g.154533446G>A	GRCh38
NC_000023.10:g.153761661G>A , CM000685.1:g.153761661G>A	GRCh37
NC_000023.9:g.153414855G>A	NCBI36
NG_009015.2:g.19127C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393564.7:c.864+130C>T	ENSP00000377194.2:n.864+130C>T
ENST00000439227.6:c.867+130C>T	ENSP00000395599.2:n.867+130C>T
ENST00000696420.1:c.864+130C>T	ENSP00000512615.1:n.864+130C>T
ENST00000696421.1:c.864+130C>T	ENSP00000512616.1:n.864+130C>T
ENST00000696422.1:c.727+130C>T
ENST00000696423.1:c.730+130C>T
ENST00000696424.1:c.716+130C>T	ENSP00000512619.1:n.716+130C>T
ENST00000696425.1:c.864+130C>T	ENSP00000512620.1:n.864+130C>T
ENST00000696426.1:c.*7C>T	ENSP00000512621.1:n.*7C>T
ENST00000696427.1:c.871+123C>T	ENSP00000512622.1:n.871+123C>T
ENST00000696428.1:c.*706+130C>T	ENSP00000512623.1:n.*706+130C>T
ENST00000696429.1:c.864+130C>T	ENSP00000512624.1:n.864+130C>T
ENST00000696430.1:c.864+130C>T	ENSP00000512625.1:n.864+130C>T
ENST00000393562.10:c.864+130C>T MANE Select	ENSP00000377192.3:n.864+130C>T
ENST00000369620.6:c.1002+130C>T	ENSP00000358633.2:n.1002+130C>T
ENST00000393562.6:c.954+130C>T	ENSP00000377192.2:n.954+130C>T
ENST00000393564.6:c.864+130C>T	ENSP00000377194.2:n.864+130C>T
ENST00000439227.5:c.867+130C>T	ENSP00000395599.1:n.867+130C>T
ENST00000440967.5:c.867+130C>T	ENSP00000400648.1:n.867+130C>T
ENST00000489497.1:n.383C>T
ENST00000621232.4:c.864+130C>T	ENSP00000483686.1:n.864+130C>T
NM_000402.4:c.954+130C>T	NP_000393.4:n.954+130C>T
NM_001042351.2:c.864+130C>T	NP_001035810.1:n.864+130C>T
XM_005274657.2:c.957+130C>T	XP_005274714.1:n.957+130C>T
XM_005274658.2:c.867+130C>T	XP_005274715.1:n.867+130C>T
XM_011531132.1:c.957+130C>T	XP_011529434.1:n.957+130C>T
NM_001360016.2:c.864+130C>T MANE Select	NP_001346945.1:n.864+130C>T
NM_001042351.3:c.864+130C>T	NP_001035810.1:n.864+130C>T