Canonical Allele Identifier: CA386299176

Gene: GNPTAB

Linked Data

• dbSNP Id: rs551905649
• gnomAD v4: 12-101764898-T-A
• MyVariant Identifiers: chr12:g.102158676T>A (hg19) ; chr12:g.101764898T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101764898T>A , CM000674.2:g.101764898T>A	GRCh38
NC_000012.11:g.102158676T>A , CM000674.1:g.102158676T>A	GRCh37
NC_000012.10:g.100682807T>A	NCBI36
NG_021243.1:g.70970A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.2019A>T MANE Select	ENSP00000299314.7:p.Lys673Asn
ENST00000299314.11:c.2019A>T	ENSP00000299314.7:p.Lys673Asn
NM_024312.4:c.2019A>T	NP_077288.2:p.Lys673Asn
XM_006719593.2:c.2019A>T	XP_006719656.1:p.Lys673Asn
XM_011538731.1:c.1938A>T	XP_011537033.1:p.Lys646Asn
XM_006719593.3:c.2019A>T	XP_006719656.1:p.Lys673Asn
XM_011538731.2:c.1938A>T	XP_011537033.1:p.Lys646Asn
XM_017019961.1:c.1803A>T	XP_016875450.1:p.Lys601Asn
XM_017019962.2:c.792A>T	XP_016875451.1:p.Lys264Asn
NM_024312.5:c.2019A>T MANE Select	NP_077288.2:p.Lys673Asn