Canonical Allele Identifier: CA415234892
Gene: G6PD HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154533109A>C , CM000685.2:g.154533109A>C GRCh38
NC_000023.10:g.153761324A>C , CM000685.1:g.153761324A>C GRCh37
NC_000023.9:g.153414518A>C NCBI36
NG_009015.2:g.19464T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000393564.7:c.884T>G ENSP00000377194.2:p.Ile295Ser
ENST00000439227.6:c.887T>G ENSP00000395599.2:p.Ile296Ser
ENST00000696420.1:c.884T>G ENSP00000512615.1:p.Ile295Ser
ENST00000696421.1:c.884T>G ENSP00000512616.1:p.Ile295Ser
ENST00000696422.1:c.747T>G
ENST00000696423.1:c.750T>G
ENST00000696424.1:c.736T>G ENSP00000512619.1:n.736T>G
ENST00000696425.1:c.865-307T>G ENSP00000512620.1:n.865-307T>G
ENST00000696426.1:c.*344T>G ENSP00000512621.1:n.*344T>G
ENST00000696427.1:c.891T>G ENSP00000512622.1:p.His297Gln
ENST00000696428.1:c.*726T>G ENSP00000512623.1:n.*726T>G
ENST00000696429.1:c.884T>G ENSP00000512624.1:p.Ile295Ser
ENST00000696430.1:c.884T>G ENSP00000512625.1:p.Ile295Ser
ENST00000393562.10:c.884T>G MANE Select ENSP00000377192.3:p.Ile295Ser
ENST00000369620.6:c.1022T>G ENSP00000358633.2:p.Ile341Ser
ENST00000393562.6:c.974T>G ENSP00000377192.2:p.Ile325Ser
ENST00000393564.6:c.884T>G ENSP00000377194.2:p.Ile295Ser
ENST00000439227.5:c.887T>G ENSP00000395599.1:p.Ile296Ser
ENST00000440967.5:c.887T>G ENSP00000400648.1:p.Ile296Ser
ENST00000621232.4:c.884T>G ENSP00000483686.1:p.Ile295Ser
NM_000402.4:c.974T>G NP_000393.4:p.Ile325Ser
NM_001042351.2:c.884T>G NP_001035810.1:p.Ile295Ser
XM_005274657.2:c.977T>G XP_005274714.1:p.Ile326Ser
XM_005274658.2:c.887T>G XP_005274715.1:p.Ile296Ser
XM_011531132.1:c.958-307T>G XP_011529434.1:n.958-307T>G
NM_001360016.2:c.884T>G MANE Select NP_001346945.1:p.Ile295Ser
NM_001042351.3:c.884T>G NP_001035810.1:p.Ile295Ser