Canonical Allele Identifier: CA386292584

Gene: GNPTAB

Linked Data

• gnomAD v4: 12-101753480-T-C
• MyVariant Identifiers: chr12:g.102147258T>C (hg19) ; chr12:g.101753480T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101753480T>C , CM000674.2:g.101753480T>C	GRCh38
NC_000012.11:g.102147258T>C , CM000674.1:g.102147258T>C	GRCh37
NC_000012.10:g.100671389T>C	NCBI36
NG_021243.1:g.82388A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.3494A>G MANE Select	ENSP00000299314.7:p.Lys1165Arg
ENST00000299314.11:c.3494A>G	ENSP00000299314.7:p.Lys1165Arg
ENST00000549738.5:c.392A>G	ENSP00000450161.1:n.392A>G
NM_024312.4:c.3494A>G	NP_077288.2:p.Lys1165Arg
XM_011538731.1:c.3413A>G	XP_011537033.1:p.Lys1138Arg
XM_011538731.2:c.3413A>G	XP_011537033.1:p.Lys1138Arg
XM_017019961.1:c.3278A>G	XP_016875450.1:p.Lys1093Arg
XM_017019962.2:c.2267A>G	XP_016875451.1:p.Lys756Arg
NM_024312.5:c.3494A>G MANE Select	NP_077288.2:p.Lys1165Arg