Canonical Allele Identifier: CA2695139651

Gene: G6PD

Linked Data

• gnomAD v4: X-154531480-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154531480C>G , CM000685.2:g.154531480C>G	GRCh38
NC_000023.10:g.153759695C>G , CM000685.1:g.153759695C>G	GRCh37
NC_000023.9:g.153412889C>G	NCBI36
NG_009015.2:g.21093G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393564.7:c.*520G>C	ENSP00000377194.2:n.*520G>C
ENST00000439227.6:c.*520G>C	ENSP00000395599.2:n.*520G>C
ENST00000696420.1:c.1457+708G>C	ENSP00000512615.1:n.1457+708G>C
ENST00000696421.1:c.1457+708G>C	ENSP00000512616.1:n.1457+708G>C
ENST00000696422.1:c.1931G>C
ENST00000696423.1:c.1934G>C
ENST00000696424.1:c.1920G>C	ENSP00000512619.1:n.1920G>C
ENST00000696425.1:c.*981G>C	ENSP00000512620.1:n.*981G>C
ENST00000696426.1:c.*1528G>C	ENSP00000512621.1:n.*1528G>C
ENST00000696427.1:c.*1028G>C	ENSP00000512622.1:n.*1028G>C
ENST00000696428.1:c.*1910G>C	ENSP00000512623.1:n.*1910G>C
ENST00000696429.1:c.*520G>C	ENSP00000512624.1:n.*520G>C
ENST00000696430.1:c.*520G>C	ENSP00000512625.1:n.*520G>C
ENST00000393562.10:c.*520G>C MANE Select	ENSP00000377192.3:n.*520G>C
ENST00000393562.6:c.*520G>C	ENSP00000377192.2:n.*520G>C
ENST00000621232.4:c.*520G>C	ENSP00000483686.1:n.*520G>C
NM_000402.4:c.*520G>C	NP_000393.4:n.*520G>C
NM_001042351.2:c.*520G>C	NP_001035810.1:n.*520G>C
XM_005274657.2:c.*520G>C	XP_005274714.1:n.*520G>C
XM_005274658.2:c.*520G>C	XP_005274715.1:n.*520G>C
NM_001360016.2:c.*520G>C MANE Select	NP_001346945.1:n.*520G>C
NM_001042351.3:c.*520G>C	NP_001035810.1:n.*520G>C