Canonical Allele Identifier: CA386294875

Gene: GNPTAB

Linked Data

• gnomAD v4: 12-101760119-G-T
• MyVariant Identifiers: chr12:g.102153897G>T (hg19) ; chr12:g.101760119G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101760119G>T , CM000674.2:g.101760119G>T	GRCh38
NC_000012.11:g.102153897G>T , CM000674.1:g.102153897G>T	GRCh37
NC_000012.10:g.100678028G>T	NCBI36
NG_021243.1:g.75749C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000299314.12:c.3160C>A MANE Select	ENSP00000299314.7:p.Leu1054Ile
ENST00000299314.11:c.3160C>A	ENSP00000299314.7:p.Leu1054Ile
ENST00000549194.1:n.26C>A
NM_024312.4:c.3160C>A	NP_077288.2:p.Leu1054Ile
XM_006719593.2:c.3160C>A	XP_006719656.1:p.Leu1054Ile
XM_011538731.1:c.3079C>A	XP_011537033.1:p.Leu1027Ile
XM_006719593.3:c.3160C>A	XP_006719656.1:p.Leu1054Ile
XM_011538731.2:c.3079C>A	XP_011537033.1:p.Leu1027Ile
XM_017019961.1:c.2944C>A	XP_016875450.1:p.Leu982Ile
XM_017019962.2:c.1933C>A	XP_016875451.1:p.Leu645Ile
NM_024312.5:c.3160C>A MANE Select	NP_077288.2:p.Leu1054Ile