Canonical Allele Identifier: CA338193721
Gene: H6PD HGNC NCBI

Linked Data

dbSNP Id: rs766100678
gnomAD v2: 1-9324321-C-G
gnomAD v3: 1-9264262-C-G
gnomAD v4: 1-9264262-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.9264262C>G , CM000663.2:g.9264262C>G GRCh38
NC_000001.10:g.9324321C>G , CM000663.1:g.9324321C>G GRCh37
NC_000001.9:g.9246908C>G NCBI36
NG_012218.1:g.34459C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000377403.7:c.1769C>G MANE Select ENSP00000366620.2:p.Ser590Trp
ENST00000377403.6:c.1769C>G ENSP00000366620.1:p.Ser590Trp
ENST00000602477.1:c.1802C>G ENSP00000473348.1:p.Ser601Trp
NM_001282587.1:c.1802C>G NP_001269516.1:p.Ser601Trp
NM_004285.3:c.1769C>G NP_004276.2:p.Ser590Trp
XM_005263539.3:c.1802C>G XP_005263596.1:p.Ser601Trp
XM_005263540.3:c.1796C>G XP_005263597.1:p.Ser599Trp
XM_006711052.2:c.1769C>G XP_006711115.1:p.Ser590Trp
XM_011542446.1:c.1769C>G XP_011540748.1:p.Ser590Trp
XM_005263540.5:c.1796C>G XP_005263597.1:p.Ser599Trp
XM_006711052.4:c.1769C>G XP_006711115.1:p.Ser590Trp
XM_017002865.2:c.1769C>G XP_016858354.1:p.Ser590Trp
XM_017002866.2:c.701C>G XP_016858355.1:p.Ser234Trp
NM_001282587.2:c.1802C>G NP_001269516.1:p.Ser601Trp
NM_004285.4:c.1769C>G MANE Select NP_004276.2:p.Ser590Trp