Canonical Allele Identifier: CA2580085640

Gene: GNPTAB CHPT1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101746869A>G , CM000674.2:g.101746869A>G	GRCh38
NC_000012.11:g.102140647A>G , CM000674.1:g.102140647A>G	GRCh37
NC_000012.10:g.100664778A>G	NCBI36
NG_021243.1:g.88999T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_024312.5:c.*295T>C (GNPTAB) MANE Select	NP_077288.2:n.*295T>C
ENST00000299314.12:c.*295T>C (GNPTAB) MANE Select	ENSP00000299314.7:n.*295T>C
NM_024312.4:c.*295T>C (GNPTAB)	NP_077288.2:n.*295T>C
ENST00000299314.11:c.*295T>C (GNPTAB)	ENSP00000299314.7:n.*295T>C
XM_011538731.1:c.*295T>C (GNPTAB)	XP_011537033.1:n.*295T>C
XM_011538731.2:c.*295T>C (GNPTAB)	XP_011537033.1:n.*295T>C
XM_017019961.1:c.*295T>C (GNPTAB)	XP_016875450.1:n.*295T>C
XM_017019962.2:c.*295T>C (GNPTAB)	XP_016875451.1:n.*295T>C
XR_001748817.1:n.3015-1681A>G (CHPT1)