Canonical Allele Identifier: CA6746868
Gene: GNPTAB HGNC NCBI

Linked Data

ClinVar Variation Id: 306816
dbSNP Id: rs371813268

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.101786070T>C , CM000674.2:g.101786070T>C GRCh38
NC_000012.11:g.102179848T>C , CM000674.1:g.102179848T>C GRCh37
NC_000012.10:g.100703979T>C NCBI36
NG_021243.1:g.49798A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000299314.12:c.513A>G MANE Select ENSP00000299314.7:p.Ala171=
ENST00000299314.11:c.513A>G ENSP00000299314.7:p.Ala171=
ENST00000549940.5:c.513A>G ENSP00000449150.1:p.Ala171=
ENST00000550352.1:n.307A>G
ENST00000552681.1:c.147A>G ENSP00000449217.1:p.Ala49=
NM_024312.4:c.513A>G NP_077288.2:p.Ala171=
XM_006719593.2:c.513A>G XP_006719656.1:p.Ala171=
XM_011538731.1:c.432A>G XP_011537033.1:p.Ala144=
XM_006719593.3:c.513A>G XP_006719656.1:p.Ala171=
XM_011538731.2:c.432A>G XP_011537033.1:p.Ala144=
XM_017019961.1:c.297A>G XP_016875450.1:p.Ala99=
XM_017019962.2:c.-838A>G XP_016875451.1:n.-838A>G
NM_024312.5:c.513A>G MANE Select NP_077288.2:p.Ala171=