Canonical Allele Identifier: CA951190967
Gene: GNPTAB HGNC NCBI

Linked Data

gnomAD v3: 12-101830858-T-G
gnomAD v4: 12-101830858-T-G
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.101830858T>G , CM000674.2:g.101830858T>G GRCh38
NC_000012.11:g.102224636T>G , CM000674.1:g.102224636T>G GRCh37
NC_000012.10:g.100748767T>G NCBI36
NG_021243.1:g.5010A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000299314.12:c.-183A>C MANE Select ENSP00000299314.7:n.-183A>C
ENST00000299314.11:c.-183A>C ENSP00000299314.7:n.-183A>C
NM_024312.4:c.-183A>C NP_077288.2:n.-183A>C
XM_006719593.2:c.-183A>C XP_006719656.1:n.-183A>C
NM_024312.5:c.-183A>C MANE Select NP_077288.2:n.-183A>C
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