Canonical Allele Identifier: CA415238076
Gene: G6PD HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154534455T>A , CM000685.2:g.154534455T>A GRCh38
NC_000023.10:g.153762670T>A , CM000685.1:g.153762670T>A GRCh37
NC_000023.9:g.153415864T>A NCBI36
NG_009015.2:g.18118A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000393564.7:c.527A>T ENSP00000377194.2:p.Asp176Val
ENST00000439227.6:c.530A>T ENSP00000395599.2:p.Asp177Val
ENST00000696420.1:c.527A>T ENSP00000512615.1:p.Asp176Val
ENST00000696421.1:c.527A>T ENSP00000512616.1:p.Asp176Val
ENST00000696422.1:c.390A>T
ENST00000696423.1:c.393A>T
ENST00000696424.1:c.407A>T ENSP00000512619.1:p.Asp136Val
ENST00000696425.1:c.527A>T ENSP00000512620.1:p.Asp176Val
ENST00000696426.1:c.527A>T ENSP00000512621.1:p.Asp176Val
ENST00000696427.1:c.527A>T ENSP00000512622.1:p.Asp176Val
ENST00000696428.1:c.*369A>T ENSP00000512623.1:n.*369A>T
ENST00000696429.1:c.527A>T ENSP00000512624.1:p.Asp176Val
ENST00000696430.1:c.527A>T ENSP00000512625.1:p.Asp176Val
ENST00000393562.10:c.527A>T MANE Select ENSP00000377192.3:p.Asp176Val
ENST00000369620.6:c.527A>T ENSP00000358633.2:p.Asp176Val
ENST00000393562.6:c.617A>T ENSP00000377192.2:p.Asp206Val
ENST00000393564.6:c.527A>T ENSP00000377194.2:p.Asp176Val
ENST00000433845.1:c.527A>T ENSP00000394690.1:p.Asp176Val
ENST00000439227.5:c.530A>T ENSP00000395599.1:p.Asp177Val
ENST00000440967.5:c.530A>T ENSP00000400648.1:p.Asp177Val
ENST00000621232.4:c.527A>T ENSP00000483686.1:p.Asp176Val
NM_000402.4:c.617A>T NP_000393.4:p.Asp206Val
NM_001042351.2:c.527A>T NP_001035810.1:p.Asp176Val
XM_005274657.2:c.620A>T XP_005274714.1:p.Asp207Val
XM_005274658.2:c.530A>T XP_005274715.1:p.Asp177Val
XM_011531132.1:c.620A>T XP_011529434.1:p.Asp207Val
NM_001360016.2:c.527A>T MANE Select NP_001346945.1:p.Asp176Val
NM_001042351.3:c.527A>T NP_001035810.1:p.Asp176Val