Canonical Allele Identifier: CA386296249

Gene: GNPTAB

Linked Data

• dbSNP Id: rs2137112837
• gnomAD v4: 12-101761644-C-A
• MyVariant Identifiers: chr12:g.102155422C>A (hg19) ; chr12:g.101761644C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101761644C>A , CM000674.2:g.101761644C>A	GRCh38
NC_000012.11:g.102155422C>A , CM000674.1:g.102155422C>A	GRCh37
NC_000012.10:g.100679553C>A	NCBI36
NG_021243.1:g.74224G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.2835G>T MANE Select	ENSP00000299314.7:p.Lys945Asn
ENST00000299314.11:c.2835G>T	ENSP00000299314.7:p.Lys945Asn
NM_024312.4:c.2835G>T	NP_077288.2:p.Lys945Asn
XM_006719593.2:c.2835G>T	XP_006719656.1:p.Lys945Asn
XM_011538731.1:c.2754G>T	XP_011537033.1:p.Lys918Asn
XM_006719593.3:c.2835G>T	XP_006719656.1:p.Lys945Asn
XM_011538731.2:c.2754G>T	XP_011537033.1:p.Lys918Asn
XM_017019961.1:c.2619G>T	XP_016875450.1:p.Lys873Asn
XM_017019962.2:c.1608G>T	XP_016875451.1:p.Lys536Asn
NM_024312.5:c.2835G>T MANE Select	NP_077288.2:p.Lys945Asn