Canonical Allele Identifier: CA6746773
Gene: GNPTAB HGNC NCBI

Linked Data

ClinVar Variation Id: 306813
ClinVar RCV Id: RCV000304525 RCV000342981
dbSNP Id: rs753544044
ExAC: 12:102164844 A / G
gnomAD v2: 12-102164844-A-G
gnomAD v3: 12-101771066-A-G
gnomAD v4: 12-101771066-A-G
MyVariant Identifiers: chr12:g.102164844A>G (hg19) chr12:g.101771066A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.101771066A>G , CM000674.2:g.101771066A>G GRCh38
NC_000012.11:g.102164844A>G , CM000674.1:g.102164844A>G GRCh37
NC_000012.10:g.100688975A>G NCBI36
NG_021243.1:g.64802T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000299314.12:c.863T>C MANE Select ENSP00000299314.7:p.Met288Thr
ENST00000299314.11:c.863T>C ENSP00000299314.7:p.Met288Thr
ENST00000549940.5:c.863T>C ENSP00000449150.1:p.Met288Thr
NM_024312.4:c.863T>C NP_077288.2:p.Met288Thr
XM_006719593.2:c.863T>C XP_006719656.1:p.Met288Thr
XM_011538731.1:c.782T>C XP_011537033.1:p.Met261Thr
XM_006719593.3:c.863T>C XP_006719656.1:p.Met288Thr
XM_011538731.2:c.782T>C XP_011537033.1:p.Met261Thr
XM_017019961.1:c.647T>C XP_016875450.1:p.Met216Thr
XM_017019962.2:c.-488T>C XP_016875451.1:n.-488T>C
NM_024312.5:c.863T>C MANE Select NP_077288.2:p.Met288Thr
Search 100 bp 5'
Search 100 bp 3'