Canonical Allele Identifier: CA347484805
Gene: GGCX HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.85551851C>A , CM000664.2:g.85551851C>A GRCh38
NC_000002.11:g.85778974C>A , CM000664.1:g.85778974C>A GRCh37
NC_000002.10:g.85632485C>A NCBI36
NG_011811.2:g.14684G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000473665.2:n.6048G>T
ENST00000482662.2:n.4455G>T
ENST00000685865.1:n.2407G>T
ENST00000687250.1:n.2107G>T
ENST00000687995.1:n.1922G>T
ENST00000688205.1:c.*1163G>T ENSP00000509673.1:n.*1163G>T
ENST00000688788.1:n.1809G>T
ENST00000689276.1:c.1501G>T ENSP00000510012.1:p.Asp501Tyr
ENST00000689576.1:c.*189G>T ENSP00000508712.1:n.*189G>T
ENST00000690108.1:c.*1226G>T ENSP00000510617.1:n.*1226G>T
ENST00000690468.1:c.*122G>T ENSP00000509078.1:n.*122G>T
ENST00000690595.1:c.895G>T ENSP00000508979.1:p.Asp299Tyr
ENST00000691348.1:c.*122G>T ENSP00000509369.1:n.*122G>T
ENST00000691410.1:c.*1147G>T ENSP00000508479.1:n.*1147G>T
ENST00000693287.1:c.886G>T ENSP00000510264.1:p.Asp296Tyr
ENST00000693681.1:c.883G>T ENSP00000510789.1:p.Asp295Tyr
ENST00000233838.9:c.1570G>T MANE Select ENSP00000233838.3:p.Asp524Tyr
ENST00000233838.8:c.1570G>T ENSP00000233838.3:p.Asp524Tyr
ENST00000430215.7:c.1399G>T ENSP00000408045.3:p.Asp467Tyr
ENST00000465637.5:n.179-3847G>T
NM_000821.5:c.1570G>T NP_000812.2:p.Asp524Tyr
NM_000821.6:c.1570G>T NP_000812.2:p.Asp524Tyr
NM_001142269.2:c.1399G>T NP_001135741.1:p.Asp467Tyr
NM_001142269.3:c.1399G>T NP_001135741.1:p.Asp467Tyr
XM_005264259.3:c.1570G>T XP_005264316.1:p.Asp524Tyr
XM_011532764.1:c.748G>T XP_011531066.1:p.Asp250Tyr
XM_011532765.1:c.748G>T XP_011531067.1:p.Asp250Tyr
XR_939677.1:n.1483G>T
XM_005264259.5:c.1570G>T XP_005264316.1:p.Asp524Tyr
XM_011532764.3:c.748G>T XP_011531066.1:p.Asp250Tyr
XM_011532765.3:c.748G>T XP_011531067.1:p.Asp250Tyr
XM_017003803.2:c.1399G>T XP_016859292.1:p.Asp467Tyr
XR_001738703.2:n.1483G>T
NM_000821.7:c.1570G>T MANE Select NP_000812.2:p.Asp524Tyr
NM_001142269.4:c.1399G>T NP_001135741.1:p.Asp467Tyr