Canonical Allele Identifier: CA386302919

Gene: GNPTAB

Linked Data

• ClinVar Variation Id: 991286
• ClinVar RCV Id: RCV001279476
• dbSNP Id: rs1953152857
• gnomAD v4: 12-101770409-G-C
• MyVariant Identifiers: chr12:g.102164187G>C (hg19) ; chr12:g.101770409G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101770409G>C , CM000674.2:g.101770409G>C	GRCh38
NC_000012.11:g.102164187G>C , CM000674.1:g.102164187G>C	GRCh37
NC_000012.10:g.100688318G>C	NCBI36
NG_021243.1:g.65459C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000299314.12:c.1110C>G MANE Select	ENSP00000299314.7:p.His370Gln
ENST00000299314.11:c.1110C>G	ENSP00000299314.7:p.His370Gln
ENST00000549940.5:c.1110C>G	ENSP00000449150.1:p.His370Gln
NM_024312.4:c.1110C>G	NP_077288.2:p.His370Gln
XM_006719593.2:c.1110C>G	XP_006719656.1:p.His370Gln
XM_011538731.1:c.1029C>G	XP_011537033.1:p.His343Gln
XM_006719593.3:c.1110C>G	XP_006719656.1:p.His370Gln
XM_011538731.2:c.1029C>G	XP_011537033.1:p.His343Gln
XM_017019961.1:c.894C>G	XP_016875450.1:p.His298Gln
XM_017019962.2:c.-118C>G	XP_016875451.1:n.-118C>G
NM_024312.5:c.1110C>G MANE Select	NP_077288.2:p.His370Gln