Canonical Allele Identifier: CA347484994
Gene: GGCX HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.85551937G>A , CM000664.2:g.85551937G>A GRCh38
NC_000002.11:g.85779060G>A , CM000664.1:g.85779060G>A GRCh37
NC_000002.10:g.85632571G>A NCBI36
NG_011811.2:g.14598C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000473665.2:n.5962C>T
ENST00000482662.2:n.4369C>T
ENST00000685865.1:n.2321C>T
ENST00000687250.1:n.2021C>T
ENST00000687995.1:n.1836C>T
ENST00000688205.1:c.*1077C>T ENSP00000509673.1:n.*1077C>T
ENST00000688788.1:n.1723C>T
ENST00000689276.1:c.1415C>T ENSP00000510012.1:p.Pro472Leu
ENST00000689576.1:c.*103C>T ENSP00000508712.1:n.*103C>T
ENST00000690108.1:c.*1140C>T ENSP00000510617.1:n.*1140C>T
ENST00000690468.1:c.*36C>T ENSP00000509078.1:n.*36C>T
ENST00000690595.1:c.809C>T ENSP00000508979.1:p.Pro270Leu
ENST00000691348.1:c.*36C>T ENSP00000509369.1:n.*36C>T
ENST00000691410.1:c.*1061C>T ENSP00000508479.1:n.*1061C>T
ENST00000693287.1:c.800C>T ENSP00000510264.1:p.Pro267Leu
ENST00000693681.1:c.797C>T ENSP00000510789.1:p.Pro266Leu
ENST00000233838.9:c.1484C>T MANE Select ENSP00000233838.3:p.Pro495Leu
ENST00000233838.8:c.1484C>T ENSP00000233838.3:p.Pro495Leu
ENST00000430215.7:c.1313C>T ENSP00000408045.3:p.Pro438Leu
ENST00000465637.5:n.179-3933C>T
NM_000821.5:c.1484C>T NP_000812.2:p.Pro495Leu
NM_000821.6:c.1484C>T NP_000812.2:p.Pro495Leu
NM_001142269.2:c.1313C>T NP_001135741.1:p.Pro438Leu
NM_001142269.3:c.1313C>T NP_001135741.1:p.Pro438Leu
XM_005264259.3:c.1484C>T XP_005264316.1:p.Pro495Leu
XM_011532764.1:c.662C>T XP_011531066.1:p.Pro221Leu
XM_011532765.1:c.662C>T XP_011531067.1:p.Pro221Leu
XR_939677.1:n.1397C>T
XM_005264259.5:c.1484C>T XP_005264316.1:p.Pro495Leu
XM_011532764.3:c.662C>T XP_011531066.1:p.Pro221Leu
XM_011532765.3:c.662C>T XP_011531067.1:p.Pro221Leu
XM_017003803.2:c.1313C>T XP_016859292.1:p.Pro438Leu
XR_001738703.2:n.1397C>T
NM_000821.7:c.1484C>T MANE Select NP_000812.2:p.Pro495Leu
NM_001142269.4:c.1313C>T NP_001135741.1:p.Pro438Leu