Canonical Allele Identifier: CA10566145

Gene: G6PD

Linked Data

• dbSNP Id: rs781885515
• ExAC: X:153761888 G / C
• gnomAD v2: X-153761888-G-C
• gnomAD v4: X-154533673-G-C
• MyVariant Identifiers: chrX:g.153761888G>C (hg19) ; chrX:g.154533673G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154533673G>C , CM000685.2:g.154533673G>C	GRCh38
NC_000023.10:g.153761888G>C , CM000685.1:g.153761888G>C	GRCh37
NC_000023.9:g.153415082G>C	NCBI36
NG_009015.2:g.18900C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393564.7:c.771-4C>G	ENSP00000377194.2:n.771-4C>G
ENST00000439227.6:c.774-4C>G	ENSP00000395599.2:n.774-4C>G
ENST00000696420.1:c.771-4C>G	ENSP00000512615.1:n.771-4C>G
ENST00000696421.1:c.771-4C>G	ENSP00000512616.1:n.771-4C>G
ENST00000696422.1:c.634-4C>G
ENST00000696423.1:c.637-4C>G
ENST00000696424.1:c.651-32C>G	ENSP00000512619.1:n.651-32C>G
ENST00000696425.1:c.771-4C>G	ENSP00000512620.1:n.771-4C>G
ENST00000696426.1:c.771-4C>G	ENSP00000512621.1:n.771-4C>G
ENST00000696427.1:c.771-4C>G	ENSP00000512622.1:n.771-4C>G
ENST00000696428.1:c.*613-4C>G	ENSP00000512623.1:n.*613-4C>G
ENST00000696429.1:c.771-4C>G	ENSP00000512624.1:n.771-4C>G
ENST00000696430.1:c.771-4C>G	ENSP00000512625.1:n.771-4C>G
ENST00000393562.10:c.771-4C>G MANE Select	ENSP00000377192.3:n.771-4C>G
ENST00000369620.6:c.905C>G	ENSP00000358633.2:p.Pro302Arg
ENST00000393562.6:c.861-4C>G	ENSP00000377192.2:n.861-4C>G
ENST00000393564.6:c.771-4C>G	ENSP00000377194.2:n.771-4C>G
ENST00000439227.5:c.774-4C>G	ENSP00000395599.1:n.774-4C>G
ENST00000440967.5:c.774-4C>G	ENSP00000400648.1:n.774-4C>G
ENST00000489497.1:n.160-4C>G
ENST00000621232.4:c.771-4C>G	ENSP00000483686.1:n.771-4C>G
NM_000402.4:c.861-4C>G	NP_000393.4:n.861-4C>G
NM_001042351.2:c.771-4C>G	NP_001035810.1:n.771-4C>G
XM_005274657.2:c.864-4C>G	XP_005274714.1:n.864-4C>G
XM_005274658.2:c.774-4C>G	XP_005274715.1:n.774-4C>G
XM_011531132.1:c.864-4C>G	XP_011529434.1:n.864-4C>G
NM_001360016.2:c.771-4C>G MANE Select	NP_001346945.1:n.771-4C>G
NM_001042351.3:c.771-4C>G	NP_001035810.1:n.771-4C>G