Canonical Allele Identifier: CA386293654

Gene: GNPTAB

Linked Data

• gnomAD v4: 12-101757601-G-T
• MyVariant Identifiers: chr12:g.102151379G>T (hg19) ; chr12:g.101757601G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101757601G>T , CM000674.2:g.101757601G>T	GRCh38
NC_000012.11:g.102151379G>T , CM000674.1:g.102151379G>T	GRCh37
NC_000012.10:g.100675510G>T	NCBI36
NG_021243.1:g.78267C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.3306C>A MANE Select	ENSP00000299314.7:p.His1102Gln
ENST00000299314.11:c.3306C>A	ENSP00000299314.7:p.His1102Gln
ENST00000549194.1:n.172C>A
ENST00000549738.5:c.57C>A	ENSP00000450161.1:p.His19Gln
ENST00000550718.1:c.118C>A
NM_024312.4:c.3306C>A	NP_077288.2:p.His1102Gln
XM_006719593.2:c.3306C>A	XP_006719656.1:p.His1102Gln
XM_011538731.1:c.3225C>A	XP_011537033.1:p.His1075Gln
XM_006719593.3:c.3306C>A	XP_006719656.1:p.His1102Gln
XM_011538731.2:c.3225C>A	XP_011537033.1:p.His1075Gln
XM_017019961.1:c.3090C>A	XP_016875450.1:p.His1030Gln
XM_017019962.2:c.2079C>A	XP_016875451.1:p.His693Gln
NM_024312.5:c.3306C>A MANE Select	NP_077288.2:p.His1102Gln