Canonical Allele Identifier: CA2058985310
Gene: GNPTAB HGNC NCBI

Linked Data

dbSNP Id: rs1871340241
gnomAD v4: 12-101830850-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.101830850G>A , CM000674.2:g.101830850G>A GRCh38
NC_000012.11:g.102224628G>A , CM000674.1:g.102224628G>A GRCh37
NC_000012.10:g.100748759G>A NCBI36
NG_021243.1:g.5018C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000299314.12:c.-175C>T MANE Select ENSP00000299314.7:n.-175C>T
ENST00000299314.11:c.-175C>T ENSP00000299314.7:n.-175C>T
NM_024312.4:c.-175C>T NP_077288.2:n.-175C>T
XM_006719593.2:c.-175C>T XP_006719656.1:n.-175C>T
NM_024312.5:c.-175C>T MANE Select NP_077288.2:n.-175C>T
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