Canonical Allele Identifier: CA386299229

Gene: GNPTAB

Linked Data

• gnomAD v4: 12-101764920-A-T
• MyVariant Identifiers: chr12:g.102158698A>T (hg19) ; chr12:g.101764920A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101764920A>T , CM000674.2:g.101764920A>T	GRCh38
NC_000012.11:g.102158698A>T , CM000674.1:g.102158698A>T	GRCh37
NC_000012.10:g.100682829A>T	NCBI36
NG_021243.1:g.70948T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.1997T>A MANE Select	ENSP00000299314.7:p.Phe666Tyr
ENST00000299314.11:c.1997T>A	ENSP00000299314.7:p.Phe666Tyr
NM_024312.4:c.1997T>A	NP_077288.2:p.Phe666Tyr
XM_006719593.2:c.1997T>A	XP_006719656.1:p.Phe666Tyr
XM_011538731.1:c.1916T>A	XP_011537033.1:p.Phe639Tyr
XM_006719593.3:c.1997T>A	XP_006719656.1:p.Phe666Tyr
XM_011538731.2:c.1916T>A	XP_011537033.1:p.Phe639Tyr
XM_017019961.1:c.1781T>A	XP_016875450.1:p.Phe594Tyr
XM_017019962.2:c.770T>A	XP_016875451.1:p.Phe257Tyr
NM_024312.5:c.1997T>A MANE Select	NP_077288.2:p.Phe666Tyr