Canonical Allele Identifier: CA347484765
Gene: GGCX HGNC NCBI

Linked Data

dbSNP Id: rs1691966898

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.85551835A>G , CM000664.2:g.85551835A>G GRCh38
NC_000002.11:g.85778958A>G , CM000664.1:g.85778958A>G GRCh37
NC_000002.10:g.85632469A>G NCBI36
NG_011811.2:g.14700T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000473665.2:n.6064T>C
ENST00000482662.2:n.4471T>C
ENST00000685865.1:n.2423T>C
ENST00000687250.1:n.2123T>C
ENST00000687995.1:n.1938T>C
ENST00000688205.1:c.*1179T>C ENSP00000509673.1:n.*1179T>C
ENST00000688788.1:n.1825T>C
ENST00000689276.1:c.1517T>C ENSP00000510012.1:p.Val506Ala
ENST00000689576.1:c.*205T>C ENSP00000508712.1:n.*205T>C
ENST00000690108.1:c.*1242T>C ENSP00000510617.1:n.*1242T>C
ENST00000690468.1:c.*138T>C ENSP00000509078.1:n.*138T>C
ENST00000690595.1:c.911T>C ENSP00000508979.1:p.Val304Ala
ENST00000691348.1:c.*138T>C ENSP00000509369.1:n.*138T>C
ENST00000691410.1:c.*1163T>C ENSP00000508479.1:n.*1163T>C
ENST00000693287.1:c.902T>C ENSP00000510264.1:p.Val301Ala
ENST00000693681.1:c.899T>C ENSP00000510789.1:p.Val300Ala
ENST00000233838.9:c.1586T>C MANE Select ENSP00000233838.3:p.Val529Ala
ENST00000233838.8:c.1586T>C ENSP00000233838.3:p.Val529Ala
ENST00000430215.7:c.1415T>C ENSP00000408045.3:p.Val472Ala
ENST00000465637.5:n.179-3831T>C
NM_000821.5:c.1586T>C NP_000812.2:p.Val529Ala
NM_000821.6:c.1586T>C NP_000812.2:p.Val529Ala
NM_001142269.2:c.1415T>C NP_001135741.1:p.Val472Ala
NM_001142269.3:c.1415T>C NP_001135741.1:p.Val472Ala
XM_005264259.3:c.1586T>C XP_005264316.1:p.Val529Ala
XM_011532764.1:c.764T>C XP_011531066.1:p.Val255Ala
XM_011532765.1:c.764T>C XP_011531067.1:p.Val255Ala
XR_939677.1:n.1499T>C
XM_005264259.5:c.1586T>C XP_005264316.1:p.Val529Ala
XM_011532764.3:c.764T>C XP_011531066.1:p.Val255Ala
XM_011532765.3:c.764T>C XP_011531067.1:p.Val255Ala
XM_017003803.2:c.1415T>C XP_016859292.1:p.Val472Ala
XR_001738703.2:n.1499T>C
NM_000821.7:c.1586T>C MANE Select NP_000812.2:p.Val529Ala
NM_001142269.4:c.1415T>C NP_001135741.1:p.Val472Ala