Canonical Allele Identifier: CA242320129
Gene: GNPTAB HGNC NCBI

Linked Data

dbSNP Id: rs987396376
gnomAD v2: 12-102224694-G-C
gnomAD v3: 12-101830916-G-C
gnomAD v4: 12-101830916-G-C
MyVariant Identifiers: chr12:g.102224694G>C (hg19) chr12:g.101830916G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.101830916G>C , CM000674.2:g.101830916G>C GRCh38
NC_000012.11:g.102224694G>C , CM000674.1:g.102224694G>C GRCh37
NC_000012.10:g.100748825G>C NCBI36
NG_021243.1:g.4952C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000299314.12:c.-241C>G MANE Select ENSP00000299314.7:n.-241C>G
ENST00000299314.11:c.-241C>G ENSP00000299314.7:n.-241C>G
NM_024312.5:c.-241C>G MANE Select NP_077288.2:n.-241C>G
Search 100 bp 5'
Search 100 bp 3'