Canonical Allele Identifier: CA386303300

Gene: GNPTAB

Linked Data

• dbSNP Id: rs747179171
• gnomAD v2: 12-102164319-G-C
• gnomAD v4: 12-101770541-G-C
• MyVariant Identifiers: chr12:g.102164319G>C (hg19) ; chr12:g.101770541G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101770541G>C , CM000674.2:g.101770541G>C	GRCh38
NC_000012.11:g.102164319G>C , CM000674.1:g.102164319G>C	GRCh37
NC_000012.10:g.100688450G>C	NCBI36
NG_021243.1:g.65327C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.978C>G MANE Select	ENSP00000299314.7:p.Asn326Lys
ENST00000299314.11:c.978C>G	ENSP00000299314.7:p.Asn326Lys
ENST00000549940.5:c.978C>G	ENSP00000449150.1:p.Asn326Lys
NM_024312.4:c.978C>G	NP_077288.2:p.Asn326Lys
XM_006719593.2:c.978C>G	XP_006719656.1:p.Asn326Lys
XM_011538731.1:c.897C>G	XP_011537033.1:p.Asn299Lys
XM_006719593.3:c.978C>G	XP_006719656.1:p.Asn326Lys
XM_011538731.2:c.897C>G	XP_011537033.1:p.Asn299Lys
XM_017019961.1:c.762C>G	XP_016875450.1:p.Asn254Lys
XM_017019962.2:c.-250C>G	XP_016875451.1:n.-250C>G
NM_024312.5:c.978C>G MANE Select	NP_077288.2:p.Asn326Lys