Canonical Allele Identifier: CA386291524

Gene: GNPTAB CHPT1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101747242C>T , CM000674.2:g.101747242C>T	GRCh38
NC_000012.11:g.102141020C>T , CM000674.1:g.102141020C>T	GRCh37
NC_000012.10:g.100665151C>T	NCBI36
NG_021243.1:g.88626G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_024312.5:c.3694-1G>A (GNPTAB) MANE Select	NP_077288.2:n.3694-1G>A
ENST00000299314.12:c.3694-1G>A (GNPTAB) MANE Select	ENSP00000299314.7:n.3694-1G>A
NM_024312.4:c.3694-1G>A (GNPTAB)	NP_077288.2:n.3694-1G>A
ENST00000299314.11:c.3694-1G>A (GNPTAB)	ENSP00000299314.7:n.3694-1G>A
XM_011538731.1:c.3613-1G>A (GNPTAB)	XP_011537033.1:n.3613-1G>A
XM_011538731.2:c.3613-1G>A (GNPTAB)	XP_011537033.1:n.3613-1G>A
XM_017019961.1:c.3478-1G>A (GNPTAB)	XP_016875450.1:n.3478-1G>A
XM_017019962.2:c.2467-1G>A (GNPTAB)	XP_016875451.1:n.2467-1G>A
XR_001748817.1:n.3015-1308C>T (CHPT1)