Canonical Allele Identifier: CA415234481
Gene: G6PD HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154533008G>T , CM000685.2:g.154533008G>T GRCh38
NC_000023.10:g.153761223G>T , CM000685.1:g.153761223G>T GRCh37
NC_000023.9:g.153414417G>T NCBI36
NG_009015.2:g.19565C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000393564.7:c.985C>A ENSP00000377194.2:p.Pro329Thr
ENST00000439227.6:c.988C>A ENSP00000395599.2:p.Pro330Thr
ENST00000696420.1:c.985C>A ENSP00000512615.1:p.Pro329Thr
ENST00000696421.1:c.985C>A ENSP00000512616.1:p.Pro329Thr
ENST00000696422.1:c.848C>A
ENST00000696423.1:c.851C>A
ENST00000696424.1:c.837C>A ENSP00000512619.1:n.837C>A
ENST00000696425.1:c.865-206C>A ENSP00000512620.1:n.865-206C>A
ENST00000696426.1:c.*445C>A ENSP00000512621.1:n.*445C>A
ENST00000696427.1:c.992C>A ENSP00000512622.1:p.Ala331Asp
ENST00000696428.1:c.*827C>A ENSP00000512623.1:n.*827C>A
ENST00000696429.1:c.985C>A ENSP00000512624.1:p.Pro329Thr
ENST00000696430.1:c.985C>A ENSP00000512625.1:p.Pro329Thr
ENST00000393562.10:c.985C>A MANE Select ENSP00000377192.3:p.Pro329Thr
ENST00000369620.6:c.1123C>A ENSP00000358633.2:p.Pro375Thr
ENST00000393562.6:c.1075C>A ENSP00000377192.2:p.Pro359Thr
ENST00000393564.6:c.985C>A ENSP00000377194.2:p.Pro329Thr
ENST00000439227.5:c.988C>A ENSP00000395599.1:p.Pro330Thr
ENST00000490651.1:n.67C>A
ENST00000621232.4:c.985C>A ENSP00000483686.1:p.Pro329Thr
NM_000402.4:c.1075C>A NP_000393.4:p.Pro359Thr
NM_001042351.2:c.985C>A NP_001035810.1:p.Pro329Thr
XM_005274657.2:c.1078C>A XP_005274714.1:p.Pro360Thr
XM_005274658.2:c.988C>A XP_005274715.1:p.Pro330Thr
XM_011531132.1:c.958-206C>A XP_011529434.1:n.958-206C>A
NM_001360016.2:c.985C>A MANE Select NP_001346945.1:p.Pro329Thr
NM_001042351.3:c.985C>A NP_001035810.1:p.Pro329Thr