Canonical Allele Identifier: CA386296477

Gene: GNPTAB

Linked Data

• gnomAD v4: 12-101761744-G-T
• MyVariant Identifiers: chr12:g.102155522G>T (hg19) ; chr12:g.101761744G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101761744G>T , CM000674.2:g.101761744G>T	GRCh38
NC_000012.11:g.102155522G>T , CM000674.1:g.102155522G>T	GRCh37
NC_000012.10:g.100679653G>T	NCBI36
NG_021243.1:g.74124C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.2735C>A MANE Select	ENSP00000299314.7:p.Thr912Lys
ENST00000299314.11:c.2735C>A	ENSP00000299314.7:p.Thr912Lys
NM_024312.4:c.2735C>A	NP_077288.2:p.Thr912Lys
XM_006719593.2:c.2735C>A	XP_006719656.1:p.Thr912Lys
XM_011538731.1:c.2654C>A	XP_011537033.1:p.Thr885Lys
XM_006719593.3:c.2735C>A	XP_006719656.1:p.Thr912Lys
XM_011538731.2:c.2654C>A	XP_011537033.1:p.Thr885Lys
XM_017019961.1:c.2519C>A	XP_016875450.1:p.Thr840Lys
XM_017019962.2:c.1508C>A	XP_016875451.1:p.Thr503Lys
NM_024312.5:c.2735C>A MANE Select	NP_077288.2:p.Thr912Lys