Canonical Allele Identifier: CA645178420

Gene: G6PD

Linked Data

• dbSNP Id: rs1245340929
• gnomAD v2: X-153759705-G-A
• gnomAD v3: X-154531490-G-A
• gnomAD v4: X-154531490-G-A
• MyVariant Identifiers: chrX:g.153759705G>A (hg19) ; chrX:g.154531490G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154531490G>A , CM000685.2:g.154531490G>A	GRCh38
NC_000023.10:g.153759705G>A , CM000685.1:g.153759705G>A	GRCh37
NC_000023.9:g.153412899G>A	NCBI36
NG_009015.2:g.21083C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393564.7:c.*510C>T	ENSP00000377194.2:n.*510C>T
ENST00000439227.6:c.*510C>T	ENSP00000395599.2:n.*510C>T
ENST00000696420.1:c.1457+698C>T	ENSP00000512615.1:n.1457+698C>T
ENST00000696421.1:c.1457+698C>T	ENSP00000512616.1:n.1457+698C>T
ENST00000696422.1:c.1921C>T
ENST00000696423.1:c.1924C>T
ENST00000696424.1:c.1910C>T	ENSP00000512619.1:n.1910C>T
ENST00000696425.1:c.*971C>T	ENSP00000512620.1:n.*971C>T
ENST00000696426.1:c.*1518C>T	ENSP00000512621.1:n.*1518C>T
ENST00000696427.1:c.*1018C>T	ENSP00000512622.1:n.*1018C>T
ENST00000696428.1:c.*1900C>T	ENSP00000512623.1:n.*1900C>T
ENST00000696429.1:c.*510C>T	ENSP00000512624.1:n.*510C>T
ENST00000696430.1:c.*510C>T	ENSP00000512625.1:n.*510C>T
ENST00000393562.10:c.*510C>T MANE Select	ENSP00000377192.3:n.*510C>T
ENST00000393562.6:c.*510C>T	ENSP00000377192.2:n.*510C>T
ENST00000621232.4:c.*510C>T	ENSP00000483686.1:n.*510C>T
NM_000402.4:c.*510C>T	NP_000393.4:n.*510C>T
NM_001042351.2:c.*510C>T	NP_001035810.1:n.*510C>T
XM_005274657.2:c.*510C>T	XP_005274714.1:n.*510C>T
XM_005274658.2:c.*510C>T	XP_005274715.1:n.*510C>T
NM_001360016.2:c.*510C>T MANE Select	NP_001346945.1:n.*510C>T
NM_001042351.3:c.*510C>T	NP_001035810.1:n.*510C>T