Canonical Allele Identifier: CA607383729
Gene: GNPTAB HGNC NCBI

Linked Data

dbSNP Id: rs1321721354
gnomAD v2: 12-102224602-G-T
gnomAD v3: 12-101830824-G-T
gnomAD v4: 12-101830824-G-T
MyVariant Identifiers: chr12:g.102224602G>T (hg19) chr12:g.101830824G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.101830824G>T , CM000674.2:g.101830824G>T GRCh38
NC_000012.11:g.102224602G>T , CM000674.1:g.102224602G>T GRCh37
NC_000012.10:g.100748733G>T NCBI36
NG_021243.1:g.5044C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000299314.12:c.-149C>A MANE Select ENSP00000299314.7:n.-149C>A
ENST00000299314.11:c.-149C>A ENSP00000299314.7:n.-149C>A
ENST00000392919.4:c.-149C>A ENSP00000376651.4:n.-149C>A
NM_024312.4:c.-149C>A NP_077288.2:n.-149C>A
XM_006719593.2:c.-149C>A XP_006719656.1:n.-149C>A
XM_017019961.1:c.-298C>A XP_016875450.1:n.-298C>A
NM_024312.5:c.-149C>A MANE Select NP_077288.2:n.-149C>A
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