Canonical Allele Identifier: CA242320012
Gene: GNPTAB HGNC NCBI

Linked Data

dbSNP Id: rs1048915361
gnomAD v2: 12-102224647-G-A
gnomAD v3: 12-101830869-G-A
gnomAD v4: 12-101830869-G-A
MyVariant Identifiers: chr12:g.102224647G>A (hg19) chr12:g.101830869G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.101830869G>A , CM000674.2:g.101830869G>A GRCh38
NC_000012.11:g.102224647G>A , CM000674.1:g.102224647G>A GRCh37
NC_000012.10:g.100748778G>A NCBI36
NG_021243.1:g.4999C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000299314.12:c.-194C>T MANE Select ENSP00000299314.7:n.-194C>T
ENST00000299314.11:c.-194C>T ENSP00000299314.7:n.-194C>T
NM_024312.5:c.-194C>T MANE Select NP_077288.2:n.-194C>T
Search 100 bp 5'
Search 100 bp 3'