Canonical Allele Identifier: CA415232236

Gene: G6PD

Linked Data

• MyVariant Identifiers: chrX:g.153760403C>G (hg19) ; chrX:g.154532188C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154532188C>G , CM000685.2:g.154532188C>G	GRCh38
NC_000023.10:g.153760403C>G , CM000685.1:g.153760403C>G	GRCh37
NC_000023.9:g.153413597C>G	NCBI36
NG_009015.2:g.20385G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393564.7:c.1457G>C	ENSP00000377194.2:p.Ser486Thr
ENST00000439227.6:c.1460G>C	ENSP00000395599.2:p.Ser487Thr
ENST00000696420.1:c.1457G>C	ENSP00000512615.1:p.Arg486Thr
ENST00000696421.1:c.1457G>C	ENSP00000512616.1:p.Ser486Thr
ENST00000696422.1:c.1320G>C
ENST00000696423.1:c.1323G>C
ENST00000696424.1:c.1309G>C	ENSP00000512619.1:n.1309G>C
ENST00000696425.1:c.*370G>C	ENSP00000512620.1:n.*370G>C
ENST00000696426.1:c.*917G>C	ENSP00000512621.1:n.*917G>C
ENST00000696427.1:c.*417G>C	ENSP00000512622.1:n.*417G>C
ENST00000696428.1:c.*1299G>C	ENSP00000512623.1:n.*1299G>C
ENST00000696429.1:c.1457G>C	ENSP00000512624.1:p.Ser486Thr
ENST00000696430.1:c.1457G>C	ENSP00000512625.1:p.Ser486Thr
ENST00000393562.10:c.1457G>C MANE Select	ENSP00000377192.3:p.Ser486Thr
ENST00000369620.6:c.1595G>C	ENSP00000358633.2:p.Ser532Thr
ENST00000393562.6:c.1547G>C	ENSP00000377192.2:p.Ser516Thr
ENST00000393564.6:c.1457G>C	ENSP00000377194.2:p.Ser486Thr
ENST00000490651.1:n.678G>C
ENST00000621232.4:c.1457G>C	ENSP00000483686.1:p.Ser486Thr
NM_000402.4:c.1547G>C	NP_000393.4:p.Ser516Thr
NM_001042351.2:c.1457G>C	NP_001035810.1:p.Ser486Thr
XM_005274657.2:c.1550G>C	XP_005274714.1:p.Ser517Thr
XM_005274658.2:c.1460G>C	XP_005274715.1:p.Ser487Thr
NM_001360016.2:c.1457G>C MANE Select	NP_001346945.1:p.Ser486Thr
NM_001042351.3:c.1457G>C	NP_001035810.1:p.Ser486Thr