Canonical Allele Identifier: CA1980012

Gene: AGPS

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.177392937C>T , CM000664.2:g.177392937C>T	GRCh38
NC_000002.11:g.178257665C>T , CM000664.1:g.178257665C>T	GRCh37
NC_000002.10:g.177965911C>T	NCBI36
NG_008968.1:g.5195C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_003659.4:c.148C>T MANE Select	NP_003650.1:p.Arg50Trp
ENST00000264167.11:c.148C>T MANE Select	ENSP00000264167.4:p.Arg50Trp
NM_003659.3:c.148C>T	NP_003650.1:p.Arg50Trp
ENST00000264167.8:c.148C>T	ENSP00000264167.4:p.Arg50Trp
ENST00000409888.1:c.148C>T	ENSP00000386688.1:p.Arg50Trp
ENST00000460342.2:n.190C>T
ENST00000637633.2:c.148C>T	ENSP00000490844.2:p.Arg50Trp
ENST00000642466.2:c.148C>T	ENSP00000494433.2:p.Arg50Trp
ENST00000679421.1:n.178C>T
ENST00000679459.1:c.148C>T	ENSP00000506137.1:p.Arg50Trp
ENST00000680677.1:n.178C>T
ENST00000680705.1:n.192C>T
ENST00000680770.1:c.148C>T	ENSP00000505536.1:p.Arg50Trp
ENST00000680893.1:c.148C>T	ENSP00000505929.1:p.Arg50Trp
ENST00000680910.1:n.178C>T
ENST00000681032.1:c.148C>T	ENSP00000505205.1:p.Arg50Trp
ENST00000681565.1:c.148C>T	ENSP00000505620.1:p.Arg50Trp
ENST00000681752.1:c.148C>T	ENSP00000504994.1:p.Arg50Trp
XM_011512044.1:c.148C>T	XP_011510346.1:p.Arg50Trp
XM_011512045.1:c.148C>T	XP_011510347.1:p.Arg50Trp
XR_001739007.2:n.165C>T