Canonical Allele Identifier: CA481317009

Gene: GNPTAB CHPT1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101749181G>T , CM000674.2:g.101749181G>T	GRCh38
NC_000012.11:g.102142959G>T , CM000674.1:g.102142959G>T	GRCh37
NC_000012.10:g.100667090G>T	NCBI36
NG_021243.1:g.86687C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.3613C>A (GNPTAB) MANE Select	ENSP00000299314.7:p.Arg1205=
ENST00000299314.11:c.3613C>A (GNPTAB)	ENSP00000299314.7:p.Arg1205=
ENST00000549738.5:c.511C>A (GNPTAB)	ENSP00000450161.1:n.511C>A
NM_024312.4:c.3613C>A (GNPTAB)	NP_077288.2:p.Arg1205=
XM_011538731.1:c.3532C>A (GNPTAB)	XP_011537033.1:p.Arg1178=
XM_011538731.2:c.3532C>A (GNPTAB)	XP_011537033.1:p.Arg1178=
XM_017019961.1:c.3397C>A (GNPTAB)	XP_016875450.1:p.Arg1133=
XM_017019962.2:c.2386C>A (GNPTAB)	XP_016875451.1:p.Arg796=
XR_001748817.1:n.3646G>T (CHPT1)
NM_024312.5:c.3613C>A (GNPTAB) MANE Select	NP_077288.2:p.Arg1205=