Canonical Allele Identifier: CA6746119
Gene: GNPTAB HGNC NCBI

Linked Data

ClinVar Variation Id: 738859
ClinVar RCV Id: RCV000914787
dbSNP Id: rs182600512
ExAC: 12:102147197 T / C
gnomAD v2: 12-102147197-T-C
gnomAD v3: 12-101753419-T-C
gnomAD v4: 12-101753419-T-C
MyVariant Identifiers: chr12:g.102147197T>C (hg19) chr12:g.101753419T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.101753419T>C , CM000674.2:g.101753419T>C GRCh38
NC_000012.11:g.102147197T>C , CM000674.1:g.102147197T>C GRCh37
NC_000012.10:g.100671328T>C NCBI36
NG_021243.1:g.82449A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000299314.12:c.3555A>G MANE Select ENSP00000299314.7:p.Pro1185=
ENST00000299314.11:c.3555A>G ENSP00000299314.7:p.Pro1185=
ENST00000549738.5:c.453A>G ENSP00000450161.1:n.453A>G
NM_024312.4:c.3555A>G NP_077288.2:p.Pro1185=
XM_011538731.1:c.3474A>G XP_011537033.1:p.Pro1158=
XM_011538731.2:c.3474A>G XP_011537033.1:p.Pro1158=
XM_017019961.1:c.3339A>G XP_016875450.1:p.Pro1113=
XM_017019962.2:c.2328A>G XP_016875451.1:p.Pro776=
NM_024312.5:c.3555A>G MANE Select NP_077288.2:p.Pro1185=
Search 100 bp 5'
Search 100 bp 3'