Canonical Allele Identifier: CA6746126
Gene: GNPTAB HGNC NCBI

Linked Data

ClinVar Variation Id: 1199321
ClinVar RCV Id: RCV001563865 RCV001563983
dbSNP Id: rs772131427
ExAC: 12:102147227 C / A
gnomAD v2: 12-102147227-C-A
gnomAD v3: 12-101753449-C-A
gnomAD v4: 12-101753449-C-A
MyVariant Identifiers: chr12:g.102147227C>A (hg19) chr12:g.101753449C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.101753449C>A , CM000674.2:g.101753449C>A GRCh38
NC_000012.11:g.102147227C>A , CM000674.1:g.102147227C>A GRCh37
NC_000012.10:g.100671358C>A NCBI36
NG_021243.1:g.82419G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000299314.12:c.3525G>T MANE Select ENSP00000299314.7:p.Met1175Ile
ENST00000299314.11:c.3525G>T ENSP00000299314.7:p.Met1175Ile
ENST00000549738.5:c.423G>T ENSP00000450161.1:n.423G>T
NM_024312.4:c.3525G>T NP_077288.2:p.Met1175Ile
XM_011538731.1:c.3444G>T XP_011537033.1:p.Met1148Ile
XM_011538731.2:c.3444G>T XP_011537033.1:p.Met1148Ile
XM_017019961.1:c.3309G>T XP_016875450.1:p.Met1103Ile
XM_017019962.2:c.2298G>T XP_016875451.1:p.Met766Ile
NM_024312.5:c.3525G>T MANE Select NP_077288.2:p.Met1175Ile
Search 100 bp 5'
Search 100 bp 3'