Canonical Allele Identifier: CA415234049

Gene: G6PD

Linked Data

• MyVariant Identifiers: chrX:g.153760889C>A (hg19) ; chrX:g.154532674C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154532674C>A , CM000685.2:g.154532674C>A	GRCh38
NC_000023.10:g.153760889C>A , CM000685.1:g.153760889C>A	GRCh37
NC_000023.9:g.153414083C>A	NCBI36
NG_009015.2:g.19899G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000393564.7:c.1180G>T	ENSP00000377194.2:p.Val394Leu
ENST00000439227.6:c.1183G>T	ENSP00000395599.2:p.Val395Leu
ENST00000696420.1:c.1180G>T	ENSP00000512615.1:p.Val394Leu
ENST00000696421.1:c.1180G>T	ENSP00000512616.1:p.Val394Leu
ENST00000696422.1:c.1043G>T
ENST00000696423.1:c.1046G>T
ENST00000696424.1:c.1032G>T	ENSP00000512619.1:n.1032G>T
ENST00000696425.1:c.*93G>T	ENSP00000512620.1:n.*93G>T
ENST00000696426.1:c.*640G>T	ENSP00000512621.1:n.*640G>T
ENST00000696427.1:c.*140G>T	ENSP00000512622.1:n.*140G>T
ENST00000696428.1:c.*1022G>T	ENSP00000512623.1:n.*1022G>T
ENST00000696429.1:c.1180G>T	ENSP00000512624.1:p.Val394Leu
ENST00000696430.1:c.1180G>T	ENSP00000512625.1:p.Val394Leu
ENST00000393562.10:c.1180G>T MANE Select	ENSP00000377192.3:p.Val394Leu
ENST00000369620.6:c.1318G>T	ENSP00000358633.2:p.Val440Leu
ENST00000393562.6:c.1270G>T	ENSP00000377192.2:p.Val424Leu
ENST00000393564.6:c.1180G>T	ENSP00000377194.2:p.Val394Leu
ENST00000490651.1:n.401G>T
ENST00000621232.4:c.1180G>T	ENSP00000483686.1:p.Val394Leu
NM_000402.4:c.1270G>T	NP_000393.4:p.Val424Leu
NM_001042351.2:c.1180G>T	NP_001035810.1:p.Val394Leu
XM_005274657.2:c.1273G>T	XP_005274714.1:p.Val425Leu
XM_005274658.2:c.1183G>T	XP_005274715.1:p.Val395Leu
XM_011531132.1:c.*93G>T	XP_011529434.1:n.*93G>T
NM_001360016.2:c.1180G>T MANE Select	NP_001346945.1:p.Val394Leu
NM_001042351.3:c.1180G>T	NP_001035810.1:p.Val394Leu