Canonical Allele Identifier: CA6746655
Gene: GNPTAB HGNC NCBI

Linked Data

ClinVar Variation Id: 1111918
ClinVar RCV Id: RCV001438708
dbSNP Id: rs113038721
ExAC: 12:102161921 A / G
gnomAD v2: 12-102161921-A-G
gnomAD v3: 12-101768143-A-G
gnomAD v4: 12-101768143-A-G
MyVariant Identifiers: chr12:g.102161921A>G (hg19) chr12:g.101768143A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.101768143A>G , CM000674.2:g.101768143A>G GRCh38
NC_000012.11:g.102161921A>G , CM000674.1:g.102161921A>G GRCh37
NC_000012.10:g.100686052A>G NCBI36
NG_021243.1:g.67725T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000299314.12:c.1302T>C MANE Select ENSP00000299314.7:p.Pro434=
ENST00000299314.11:c.1302T>C ENSP00000299314.7:p.Pro434=
ENST00000549940.5:c.1302T>C ENSP00000449150.1:p.Pro434=
NM_024312.4:c.1302T>C NP_077288.2:p.Pro434=
XM_006719593.2:c.1302T>C XP_006719656.1:p.Pro434=
XM_011538731.1:c.1221T>C XP_011537033.1:p.Pro407=
XM_006719593.3:c.1302T>C XP_006719656.1:p.Pro434=
XM_011538731.2:c.1221T>C XP_011537033.1:p.Pro407=
XM_017019961.1:c.1086T>C XP_016875450.1:p.Pro362=
XM_017019962.2:c.75T>C XP_016875451.1:p.Pro25=
NM_024312.5:c.1302T>C MANE Select NP_077288.2:p.Pro434=
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