Canonical Allele Identifier: CA1741975
Community Standard Title: NM_000821.7(GGCX):c.903C>T (p.Tyr301=)
Gene: GGCX HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.85553484G>A , CM000664.2:g.85553484G>A GRCh38
NC_000002.11:g.85780607G>A , CM000664.1:g.85780607G>A GRCh37
NC_000002.10:g.85634118G>A NCBI36
NG_011811.2:g.13051C>T

Transcript Alleles

HGVS Amino-acid Change
NM_000821.7:c.903C>T MANE Select NP_000812.2:p.Tyr301=
ENST00000233838.9:c.903C>T MANE Select ENSP00000233838.3:p.Tyr301=
NM_000821.5:c.903C>T NP_000812.2:p.Tyr301=
NM_000821.6:c.903C>T NP_000812.2:p.Tyr301=
NM_001142269.2:c.732C>T NP_001135741.1:p.Tyr244=
NM_001142269.3:c.732C>T NP_001135741.1:p.Tyr244=
NM_001142269.4:c.732C>T NP_001135741.1:p.Tyr244=
ENST00000233838.8:c.903C>T ENSP00000233838.3:p.Tyr301=
ENST00000430215.7:c.732C>T ENSP00000408045.3:p.Tyr244=
ENST00000465637.5:n.179-5480C>T
ENST00000473665.1:n.396C>T
ENST00000473665.2:n.4947C>T
ENST00000482662.1:n.320C>T
ENST00000482662.2:n.3354C>T
ENST00000685865.1:n.1306C>T
ENST00000687250.1:n.1006C>T
ENST00000687995.1:n.1255C>T
ENST00000688205.1:c.*496C>T ENSP00000509673.1:n.*496C>T
ENST00000688788.1:n.1142C>T
ENST00000689276.1:c.834C>T ENSP00000510012.1:p.Tyr278=
ENST00000689576.1:c.903C>T ENSP00000508712.1:p.Tyr301=
ENST00000690108.1:c.*559C>T ENSP00000510617.1:n.*559C>T
ENST00000690468.1:c.624C>T ENSP00000509078.1:p.Tyr208=
ENST00000690595.1:c.228C>T ENSP00000508979.1:p.Tyr76=
ENST00000691348.1:c.732C>T ENSP00000509369.1:p.Tyr244=
ENST00000691410.1:c.*480C>T ENSP00000508479.1:n.*480C>T
ENST00000693287.1:c.219C>T ENSP00000510264.1:p.Tyr73=
ENST00000693681.1:c.216C>T ENSP00000510789.1:p.Tyr72=
XM_005264259.3:c.903C>T XP_005264316.1:p.Tyr301=
XM_005264259.5:c.903C>T XP_005264316.1:p.Tyr301=
XM_011532764.1:c.81C>T XP_011531066.1:p.Tyr27=
XM_011532764.3:c.81C>T XP_011531066.1:p.Tyr27=
XM_011532765.1:c.81C>T XP_011531067.1:p.Tyr27=
XM_011532765.3:c.81C>T XP_011531067.1:p.Tyr27=
XM_017003803.2:c.732C>T XP_016859292.1:p.Tyr244=
XR_001738703.2:n.968C>T
XR_939677.1:n.968C>T