Canonical Allele Identifier: CA386296255

Gene: GNPTAB

Linked Data

• gnomAD v4: 12-101761646-T-G
• MyVariant Identifiers: chr12:g.102155424T>G (hg19) ; chr12:g.101761646T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101761646T>G , CM000674.2:g.101761646T>G	GRCh38
NC_000012.11:g.102155424T>G , CM000674.1:g.102155424T>G	GRCh37
NC_000012.10:g.100679555T>G	NCBI36
NG_021243.1:g.74222A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.2833A>C MANE Select	ENSP00000299314.7:p.Lys945Gln
ENST00000299314.11:c.2833A>C	ENSP00000299314.7:p.Lys945Gln
NM_024312.4:c.2833A>C	NP_077288.2:p.Lys945Gln
XM_006719593.2:c.2833A>C	XP_006719656.1:p.Lys945Gln
XM_011538731.1:c.2752A>C	XP_011537033.1:p.Lys918Gln
XM_006719593.3:c.2833A>C	XP_006719656.1:p.Lys945Gln
XM_011538731.2:c.2752A>C	XP_011537033.1:p.Lys918Gln
XM_017019961.1:c.2617A>C	XP_016875450.1:p.Lys873Gln
XM_017019962.2:c.1606A>C	XP_016875451.1:p.Lys536Gln
NM_024312.5:c.2833A>C MANE Select	NP_077288.2:p.Lys945Gln