Canonical Allele Identifier: CA347486961

Gene: GGCX

Linked Data

• gnomAD v4: 2-85553006-G-A
• MyVariant Identifiers: chr2:g.85780129G>A (hg19) ; chr2:g.85553006G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.85553006G>A , CM000664.2:g.85553006G>A	GRCh38
NC_000002.11:g.85780129G>A , CM000664.1:g.85780129G>A	GRCh37
NC_000002.10:g.85633640G>A	NCBI36
NG_011811.2:g.13529C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000473665.2:n.5264C>T
ENST00000482662.2:n.3671C>T
ENST00000685865.1:n.1623C>T
ENST00000687250.1:n.1323C>T
ENST00000687995.1:n.1572C>T
ENST00000688205.1:c.*813C>T	ENSP00000509673.1:n.*813C>T
ENST00000688788.1:n.1459C>T
ENST00000689276.1:c.1151C>T	ENSP00000510012.1:p.Ser384Phe
ENST00000689576.1:c.1220C>T	ENSP00000508712.1:p.Ser407Phe
ENST00000690108.1:c.*876C>T	ENSP00000510617.1:n.*876C>T
ENST00000690468.1:c.941C>T	ENSP00000509078.1:p.Ser314Phe
ENST00000690595.1:c.545C>T	ENSP00000508979.1:p.Ser182Phe
ENST00000691348.1:c.1049C>T	ENSP00000509369.1:p.Ser350Phe
ENST00000691410.1:c.*797C>T	ENSP00000508479.1:n.*797C>T
ENST00000693287.1:c.536C>T	ENSP00000510264.1:p.Ser179Phe
ENST00000693681.1:c.533C>T	ENSP00000510789.1:p.Ser178Phe
ENST00000233838.9:c.1220C>T MANE Select	ENSP00000233838.3:p.Ser407Phe
ENST00000233838.8:c.1220C>T	ENSP00000233838.3:p.Ser407Phe
ENST00000430215.7:c.1049C>T	ENSP00000408045.3:p.Ser350Phe
ENST00000465637.5:n.179-5002C>T
ENST00000473665.1:n.713C>T
ENST00000482662.1:n.637C>T
NM_000821.5:c.1220C>T	NP_000812.2:p.Ser407Phe
NM_000821.6:c.1220C>T	NP_000812.2:p.Ser407Phe
NM_001142269.2:c.1049C>T	NP_001135741.1:p.Ser350Phe
NM_001142269.3:c.1049C>T	NP_001135741.1:p.Ser350Phe
XM_005264259.3:c.1220C>T	XP_005264316.1:p.Ser407Phe
XM_011532764.1:c.398C>T	XP_011531066.1:p.Ser133Phe
XM_011532765.1:c.398C>T	XP_011531067.1:p.Ser133Phe
XR_939677.1:n.1285C>T
XM_005264259.5:c.1220C>T	XP_005264316.1:p.Ser407Phe
XM_011532764.3:c.398C>T	XP_011531066.1:p.Ser133Phe
XM_011532765.3:c.398C>T	XP_011531067.1:p.Ser133Phe
XM_017003803.2:c.1049C>T	XP_016859292.1:p.Ser350Phe
XR_001738703.2:n.1285C>T
NM_000821.7:c.1220C>T MANE Select	NP_000812.2:p.Ser407Phe
NM_001142269.4:c.1049C>T	NP_001135741.1:p.Ser350Phe