Canonical Allele Identifier: CA1742080
Community Standard Title: NM_000821.7(GGCX):c.540-8C>T
Gene: GGCX HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.85556268G>A , CM000664.2:g.85556268G>A GRCh38
NC_000002.11:g.85783391G>A , CM000664.1:g.85783391G>A GRCh37
NC_000002.10:g.85636902G>A NCBI36
NG_011811.2:g.10267C>T

Transcript Alleles

HGVS Amino-acid Change
NM_000821.7:c.540-8C>T MANE Select NP_000812.2:n.540-8C>T
ENST00000233838.9:c.540-8C>T MANE Select ENSP00000233838.3:n.540-8C>T
NM_000821.5:c.540-8C>T NP_000812.2:n.540-8C>T
NM_000821.6:c.540-8C>T NP_000812.2:n.540-8C>T
NM_001142269.2:c.369-8C>T NP_001135741.1:n.369-8C>T
NM_001142269.3:c.369-8C>T NP_001135741.1:n.369-8C>T
NM_001142269.4:c.369-8C>T NP_001135741.1:n.369-8C>T
ENST00000233838.8:c.540-8C>T ENSP00000233838.3:n.540-8C>T
ENST00000421496.5:c.*196-8C>T ENSP00000400384.1:n.*196-8C>T
ENST00000423570.5:c.*97-8C>T ENSP00000389426.1:n.*97-8C>T
ENST00000428479.3:c.*204-8C>T ENSP00000390748.3:n.*204-8C>T
ENST00000430215.7:c.369-8C>T ENSP00000408045.3:n.369-8C>T
ENST00000465637.5:n.178+2738C>T
ENST00000473665.2:n.2808C>T
ENST00000482662.2:n.578-8C>T
ENST00000685865.1:n.943-8C>T
ENST00000687250.1:n.643-8C>T
ENST00000687995.1:n.892-8C>T
ENST00000688205.1:c.540-8C>T ENSP00000509673.1:n.540-8C>T
ENST00000688788.1:n.943-8C>T
ENST00000689276.1:c.471-8C>T ENSP00000510012.1:n.471-8C>T
ENST00000689576.1:c.540-8C>T ENSP00000508712.1:n.540-8C>T
ENST00000690108.1:c.*196-8C>T ENSP00000510617.1:n.*196-8C>T
ENST00000690468.1:c.340-678C>T ENSP00000509078.1:n.340-678C>T
ENST00000690595.1:c.215-2771C>T ENSP00000508979.1:n.215-2771C>T
ENST00000691348.1:c.369-8C>T ENSP00000509369.1:n.369-8C>T
ENST00000691410.1:c.*196-678C>T ENSP00000508479.1:n.*196-678C>T
ENST00000693287.1:c.-66-678C>T ENSP00000510264.1:n.-66-678C>T
ENST00000693681.1:c.202+2649C>T ENSP00000510789.1:n.202+2649C>T
XM_005264259.3:c.540-8C>T XP_005264316.1:n.540-8C>T
XM_005264259.5:c.540-8C>T XP_005264316.1:n.540-8C>T
XM_011532764.1:c.-119-8C>T XP_011531066.1:n.-119-8C>T
XM_011532764.3:c.-119-8C>T XP_011531066.1:n.-119-8C>T
XM_011532765.1:c.-119-8C>T XP_011531067.1:n.-119-8C>T
XM_011532765.3:c.-119-8C>T XP_011531067.1:n.-119-8C>T
XM_017003803.2:c.369-8C>T XP_016859292.1:n.369-8C>T
XR_001738703.2:n.605-8C>T
XR_939677.1:n.605-8C>T