Canonical Allele Identifier: CA645178416

Gene: G6PD

Linked Data

• dbSNP Id: rs1159900035
• gnomAD v2: X-153759681-A-G
• gnomAD v3: X-154531466-A-G
• gnomAD v4: X-154531466-A-G
• MyVariant Identifiers: chrX:g.153759681A>G (hg19) ; chrX:g.154531466A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154531466A>G , CM000685.2:g.154531466A>G	GRCh38
NC_000023.10:g.153759681A>G , CM000685.1:g.153759681A>G	GRCh37
NC_000023.9:g.153412875A>G	NCBI36
NG_009015.2:g.21107T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393564.7:c.*534T>C	ENSP00000377194.2:n.*534T>C
ENST00000439227.6:c.*534T>C	ENSP00000395599.2:n.*534T>C
ENST00000696420.1:c.1457+722T>C	ENSP00000512615.1:n.1457+722T>C
ENST00000696421.1:c.1457+722T>C	ENSP00000512616.1:n.1457+722T>C
ENST00000696422.1:c.1945T>C
ENST00000696423.1:c.1948T>C
ENST00000696424.1:c.1934T>C	ENSP00000512619.1:n.1934T>C
ENST00000696425.1:c.*995T>C	ENSP00000512620.1:n.*995T>C
ENST00000696426.1:c.*1542T>C	ENSP00000512621.1:n.*1542T>C
ENST00000696427.1:c.*1042T>C	ENSP00000512622.1:n.*1042T>C
ENST00000696428.1:c.*1924T>C	ENSP00000512623.1:n.*1924T>C
ENST00000696429.1:c.*534T>C	ENSP00000512624.1:n.*534T>C
ENST00000696430.1:c.*534T>C	ENSP00000512625.1:n.*534T>C
ENST00000393562.10:c.*534T>C MANE Select	ENSP00000377192.3:n.*534T>C
ENST00000393562.6:c.*534T>C	ENSP00000377192.2:n.*534T>C
ENST00000621232.4:c.*534T>C	ENSP00000483686.1:n.*534T>C
NM_000402.4:c.*534T>C	NP_000393.4:n.*534T>C
NM_001042351.2:c.*534T>C	NP_001035810.1:n.*534T>C
XM_005274657.2:c.*534T>C	XP_005274714.1:n.*534T>C
XM_005274658.2:c.*534T>C	XP_005274715.1:n.*534T>C
NM_001360016.2:c.*534T>C MANE Select	NP_001346945.1:n.*534T>C
NM_001042351.3:c.*534T>C	NP_001035810.1:n.*534T>C