Canonical Allele Identifier: CA386296246

Gene: GNPTAB

Linked Data

• gnomAD v4: 12-101761643-A-G
• MyVariant Identifiers: chr12:g.102155421A>G (hg19) ; chr12:g.101761643A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101761643A>G , CM000674.2:g.101761643A>G	GRCh38
NC_000012.11:g.102155421A>G , CM000674.1:g.102155421A>G	GRCh37
NC_000012.10:g.100679552A>G	NCBI36
NG_021243.1:g.74225T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.2836T>C MANE Select	ENSP00000299314.7:p.Phe946Leu
ENST00000299314.11:c.2836T>C	ENSP00000299314.7:p.Phe946Leu
NM_024312.4:c.2836T>C	NP_077288.2:p.Phe946Leu
XM_006719593.2:c.2836T>C	XP_006719656.1:p.Phe946Leu
XM_011538731.1:c.2755T>C	XP_011537033.1:p.Phe919Leu
XM_006719593.3:c.2836T>C	XP_006719656.1:p.Phe946Leu
XM_011538731.2:c.2755T>C	XP_011537033.1:p.Phe919Leu
XM_017019961.1:c.2620T>C	XP_016875450.1:p.Phe874Leu
XM_017019962.2:c.1609T>C	XP_016875451.1:p.Phe537Leu
NM_024312.5:c.2836T>C MANE Select	NP_077288.2:p.Phe946Leu