Canonical Allele Identifier: CA386299016

Gene: GNPTAB

Linked Data

• gnomAD v4: 12-101764827-A-T
• MyVariant Identifiers: chr12:g.102158605A>T (hg19) ; chr12:g.101764827A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101764827A>T , CM000674.2:g.101764827A>T	GRCh38
NC_000012.11:g.102158605A>T , CM000674.1:g.102158605A>T	GRCh37
NC_000012.10:g.100682736A>T	NCBI36
NG_021243.1:g.71041T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000299314.12:c.2090T>A MANE Select	ENSP00000299314.7:p.Leu697Gln
ENST00000299314.11:c.2090T>A	ENSP00000299314.7:p.Leu697Gln
NM_024312.4:c.2090T>A	NP_077288.2:p.Leu697Gln
XM_006719593.2:c.2090T>A	XP_006719656.1:p.Leu697Gln
XM_011538731.1:c.2009T>A	XP_011537033.1:p.Leu670Gln
XM_006719593.3:c.2090T>A	XP_006719656.1:p.Leu697Gln
XM_011538731.2:c.2009T>A	XP_011537033.1:p.Leu670Gln
XM_017019961.1:c.1874T>A	XP_016875450.1:p.Leu625Gln
XM_017019962.2:c.863T>A	XP_016875451.1:p.Leu288Gln
NM_024312.5:c.2090T>A MANE Select	NP_077288.2:p.Leu697Gln