Canonical Allele Identifier: CA682766019
Gene: GNPTAB HGNC NCBI

Linked Data

dbSNP Id: rs1362177546
gnomAD v4: 12-101830835-C-A
MyVariant Identifiers: chr12:g.102224613C>A (hg19) chr12:g.101830835C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.101830835C>A , CM000674.2:g.101830835C>A GRCh38
NC_000012.11:g.102224613C>A , CM000674.1:g.102224613C>A GRCh37
NC_000012.10:g.100748744C>A NCBI36
NG_021243.1:g.5033G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000299314.12:c.-160G>T MANE Select ENSP00000299314.7:n.-160G>T
ENST00000299314.11:c.-160G>T ENSP00000299314.7:n.-160G>T
ENST00000392919.4:c.-160G>T ENSP00000376651.4:n.-160G>T
NM_024312.4:c.-160G>T NP_077288.2:n.-160G>T
XM_006719593.2:c.-160G>T XP_006719656.1:n.-160G>T
NM_024312.5:c.-160G>T MANE Select NP_077288.2:n.-160G>T
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