Canonical Allele Identifier: CA347484725
Gene: GGCX HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.85551816G>T , CM000664.2:g.85551816G>T GRCh38
NC_000002.11:g.85778939G>T , CM000664.1:g.85778939G>T GRCh37
NC_000002.10:g.85632450G>T NCBI36
NG_011811.2:g.14719C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000473665.2:n.6083C>A
ENST00000482662.2:n.4490C>A
ENST00000685865.1:n.2442C>A
ENST00000687250.1:n.2142C>A
ENST00000687995.1:n.1957C>A
ENST00000688205.1:c.*1198C>A ENSP00000509673.1:n.*1198C>A
ENST00000688788.1:n.1844C>A
ENST00000689276.1:c.1536C>A ENSP00000510012.1:p.Phe512Leu
ENST00000689576.1:c.*224C>A ENSP00000508712.1:n.*224C>A
ENST00000690108.1:c.*1261C>A ENSP00000510617.1:n.*1261C>A
ENST00000690468.1:c.*157C>A ENSP00000509078.1:n.*157C>A
ENST00000690595.1:c.930C>A ENSP00000508979.1:p.Phe310Leu
ENST00000691348.1:c.*157C>A ENSP00000509369.1:n.*157C>A
ENST00000691410.1:c.*1182C>A ENSP00000508479.1:n.*1182C>A
ENST00000693287.1:c.921C>A ENSP00000510264.1:p.Phe307Leu
ENST00000693681.1:c.918C>A ENSP00000510789.1:p.Phe306Leu
ENST00000233838.9:c.1605C>A MANE Select ENSP00000233838.3:p.Phe535Leu
ENST00000233838.8:c.1605C>A ENSP00000233838.3:p.Phe535Leu
ENST00000430215.7:c.1434C>A ENSP00000408045.3:p.Phe478Leu
ENST00000465637.5:n.179-3812C>A
NM_000821.5:c.1605C>A NP_000812.2:p.Phe535Leu
NM_000821.6:c.1605C>A NP_000812.2:p.Phe535Leu
NM_001142269.2:c.1434C>A NP_001135741.1:p.Phe478Leu
NM_001142269.3:c.1434C>A NP_001135741.1:p.Phe478Leu
XM_005264259.3:c.1605C>A XP_005264316.1:p.Phe535Leu
XM_011532764.1:c.783C>A XP_011531066.1:p.Phe261Leu
XM_011532765.1:c.783C>A XP_011531067.1:p.Phe261Leu
XR_939677.1:n.1518C>A
XM_005264259.5:c.1605C>A XP_005264316.1:p.Phe535Leu
XM_011532764.3:c.783C>A XP_011531066.1:p.Phe261Leu
XM_011532765.3:c.783C>A XP_011531067.1:p.Phe261Leu
XM_017003803.2:c.1434C>A XP_016859292.1:p.Phe478Leu
XR_001738703.2:n.1518C>A
NM_000821.7:c.1605C>A MANE Select NP_000812.2:p.Phe535Leu
NM_001142269.4:c.1434C>A NP_001135741.1:p.Phe478Leu