Canonical Allele Identifier: CA682765940

Gene: GNPTAB

Linked Data

• dbSNP Id: rs1164854800
• gnomAD v4: 12-101830803-G-C
• MyVariant Identifiers: chr12:g.102224581G>C (hg19) ; chr12:g.101830803G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101830803G>C , CM000674.2:g.101830803G>C	GRCh38
NC_000012.11:g.102224581G>C , CM000674.1:g.102224581G>C	GRCh37
NC_000012.10:g.100748712G>C	NCBI36
NG_021243.1:g.5065C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.-128C>G MANE Select	ENSP00000299314.7:n.-128C>G
ENST00000299314.11:c.-128C>G	ENSP00000299314.7:n.-128C>G
ENST00000392919.4:c.-128C>G	ENSP00000376651.4:n.-128C>G
ENST00000549940.5:c.-128C>G	ENSP00000449150.1:n.-128C>G
NM_024312.4:c.-128C>G	NP_077288.2:n.-128C>G
XM_006719593.2:c.-128C>G	XP_006719656.1:n.-128C>G
XM_006719593.3:c.-128C>G	XP_006719656.1:n.-128C>G
XM_017019961.1:c.-277C>G	XP_016875450.1:n.-277C>G
XM_017019962.2:c.-1478C>G	XP_016875451.1:n.-1478C>G
NM_024312.5:c.-128C>G MANE Select	NP_077288.2:n.-128C>G