Canonical Allele Identifier: CA415232357

Gene: G6PD

Linked Data

• gnomAD v4: X-154532209-G-A
• MyVariant Identifiers: chrX:g.153760424G>A (hg19) ; chrX:g.154532209G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154532209G>A , CM000685.2:g.154532209G>A	GRCh38
NC_000023.10:g.153760424G>A , CM000685.1:g.153760424G>A	GRCh37
NC_000023.9:g.153413618G>A	NCBI36
NG_009015.2:g.20364C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000393564.7:c.1436C>T	ENSP00000377194.2:p.Pro479Leu
ENST00000439227.6:c.1439C>T	ENSP00000395599.2:p.Pro480Leu
ENST00000696420.1:c.1436C>T	ENSP00000512615.1:p.Pro479Leu
ENST00000696421.1:c.1436C>T	ENSP00000512616.1:p.Pro479Leu
ENST00000696422.1:c.1299C>T
ENST00000696423.1:c.1302C>T
ENST00000696424.1:c.1288C>T	ENSP00000512619.1:n.1288C>T
ENST00000696425.1:c.*349C>T	ENSP00000512620.1:n.*349C>T
ENST00000696426.1:c.*896C>T	ENSP00000512621.1:n.*896C>T
ENST00000696427.1:c.*396C>T	ENSP00000512622.1:n.*396C>T
ENST00000696428.1:c.*1278C>T	ENSP00000512623.1:n.*1278C>T
ENST00000696429.1:c.1436C>T	ENSP00000512624.1:p.Pro479Leu
ENST00000696430.1:c.1436C>T	ENSP00000512625.1:p.Pro479Leu
ENST00000393562.10:c.1436C>T MANE Select	ENSP00000377192.3:p.Pro479Leu
ENST00000369620.6:c.1574C>T	ENSP00000358633.2:p.Pro525Leu
ENST00000393562.6:c.1526C>T	ENSP00000377192.2:p.Pro509Leu
ENST00000393564.6:c.1436C>T	ENSP00000377194.2:p.Pro479Leu
ENST00000490651.1:n.657C>T
ENST00000621232.4:c.1436C>T	ENSP00000483686.1:p.Pro479Leu
NM_000402.4:c.1526C>T	NP_000393.4:p.Pro509Leu
NM_001042351.2:c.1436C>T	NP_001035810.1:p.Pro479Leu
XM_005274657.2:c.1529C>T	XP_005274714.1:p.Pro510Leu
XM_005274658.2:c.1439C>T	XP_005274715.1:p.Pro480Leu
NM_001360016.2:c.1436C>T MANE Select	NP_001346945.1:p.Pro479Leu
NM_001042351.3:c.1436C>T	NP_001035810.1:p.Pro479Leu