Canonical Allele Identifier: CA347484986
Gene: GGCX HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.85551933A>C , CM000664.2:g.85551933A>C GRCh38
NC_000002.11:g.85779056A>C , CM000664.1:g.85779056A>C GRCh37
NC_000002.10:g.85632567A>C NCBI36
NG_011811.2:g.14602T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000473665.2:n.5966T>G
ENST00000482662.2:n.4373T>G
ENST00000685865.1:n.2325T>G
ENST00000687250.1:n.2025T>G
ENST00000687995.1:n.1840T>G
ENST00000688205.1:c.*1081T>G ENSP00000509673.1:n.*1081T>G
ENST00000688788.1:n.1727T>G
ENST00000689276.1:c.1419T>G ENSP00000510012.1:p.Phe473Leu
ENST00000689576.1:c.*107T>G ENSP00000508712.1:n.*107T>G
ENST00000690108.1:c.*1144T>G ENSP00000510617.1:n.*1144T>G
ENST00000690468.1:c.*40T>G ENSP00000509078.1:n.*40T>G
ENST00000690595.1:c.813T>G ENSP00000508979.1:p.Phe271Leu
ENST00000691348.1:c.*40T>G ENSP00000509369.1:n.*40T>G
ENST00000691410.1:c.*1065T>G ENSP00000508479.1:n.*1065T>G
ENST00000693287.1:c.804T>G ENSP00000510264.1:p.Phe268Leu
ENST00000693681.1:c.801T>G ENSP00000510789.1:p.Phe267Leu
ENST00000233838.9:c.1488T>G MANE Select ENSP00000233838.3:p.Phe496Leu
ENST00000233838.8:c.1488T>G ENSP00000233838.3:p.Phe496Leu
ENST00000430215.7:c.1317T>G ENSP00000408045.3:p.Phe439Leu
ENST00000465637.5:n.179-3929T>G
NM_000821.5:c.1488T>G NP_000812.2:p.Phe496Leu
NM_000821.6:c.1488T>G NP_000812.2:p.Phe496Leu
NM_001142269.2:c.1317T>G NP_001135741.1:p.Phe439Leu
NM_001142269.3:c.1317T>G NP_001135741.1:p.Phe439Leu
XM_005264259.3:c.1488T>G XP_005264316.1:p.Phe496Leu
XM_011532764.1:c.666T>G XP_011531066.1:p.Phe222Leu
XM_011532765.1:c.666T>G XP_011531067.1:p.Phe222Leu
XR_939677.1:n.1401T>G
XM_005264259.5:c.1488T>G XP_005264316.1:p.Phe496Leu
XM_011532764.3:c.666T>G XP_011531066.1:p.Phe222Leu
XM_011532765.3:c.666T>G XP_011531067.1:p.Phe222Leu
XM_017003803.2:c.1317T>G XP_016859292.1:p.Phe439Leu
XR_001738703.2:n.1401T>G
NM_000821.7:c.1488T>G MANE Select NP_000812.2:p.Phe496Leu
NM_001142269.4:c.1317T>G NP_001135741.1:p.Phe439Leu