Canonical Allele Identifier: CA682739881

Gene: GNPTAB

Linked Data

• dbSNP Id: rs1222407515
• gnomAD v4: 12-101786302-A-C
• MyVariant Identifiers: chr12:g.102180080A>C (hg19) ; chr12:g.101786302A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101786302A>C , CM000674.2:g.101786302A>C	GRCh38
NC_000012.11:g.102180080A>C , CM000674.1:g.102180080A>C	GRCh37
NC_000012.10:g.100704211A>C	NCBI36
NG_021243.1:g.49566T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.366-85T>G MANE Select	ENSP00000299314.7:n.366-85T>G
ENST00000299314.11:c.366-85T>G	ENSP00000299314.7:n.366-85T>G
ENST00000549940.5:c.366-85T>G	ENSP00000449150.1:n.366-85T>G
ENST00000550352.1:n.160-85T>G
NM_024312.4:c.366-85T>G	NP_077288.2:n.366-85T>G
XM_006719593.2:c.366-85T>G	XP_006719656.1:n.366-85T>G
XM_011538731.1:c.285-85T>G	XP_011537033.1:n.285-85T>G
XM_006719593.3:c.366-85T>G	XP_006719656.1:n.366-85T>G
XM_011538731.2:c.285-85T>G	XP_011537033.1:n.285-85T>G
XM_017019961.1:c.150-85T>G	XP_016875450.1:n.150-85T>G
XM_017019962.2:c.-985-85T>G	XP_016875451.1:n.-985-85T>G
NM_024312.5:c.366-85T>G MANE Select	NP_077288.2:n.366-85T>G