Canonical Allele Identifier: CA2620450807
Gene: GNPTAB HGNC NCBI

Linked Data

gnomAD v4: 12-101830825-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.101830825G>T , CM000674.2:g.101830825G>T GRCh38
NC_000012.11:g.102224603G>T , CM000674.1:g.102224603G>T GRCh37
NC_000012.10:g.100748734G>T NCBI36
NG_021243.1:g.5043C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000299314.12:c.-150C>A MANE Select ENSP00000299314.7:n.-150C>A
ENST00000299314.11:c.-150C>A ENSP00000299314.7:n.-150C>A
ENST00000392919.4:c.-150C>A ENSP00000376651.4:n.-150C>A
NM_024312.4:c.-150C>A NP_077288.2:n.-150C>A
XM_006719593.2:c.-150C>A XP_006719656.1:n.-150C>A
XM_017019961.1:c.-299C>A XP_016875450.1:n.-299C>A
NM_024312.5:c.-150C>A MANE Select NP_077288.2:n.-150C>A
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