Canonical Allele Identifier: CA242320010
Gene: GNPTAB HGNC NCBI

Linked Data

dbSNP Id: rs931408913
gnomAD v2: 12-102224640-G-A
gnomAD v3: 12-101830862-G-A
gnomAD v4: 12-101830862-G-A
MyVariant Identifiers: chr12:g.102224640G>A (hg19) chr12:g.101830862G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.101830862G>A , CM000674.2:g.101830862G>A GRCh38
NC_000012.11:g.102224640G>A , CM000674.1:g.102224640G>A GRCh37
NC_000012.10:g.100748771G>A NCBI36
NG_021243.1:g.5006C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000299314.12:c.-187C>T MANE Select ENSP00000299314.7:n.-187C>T
ENST00000299314.11:c.-187C>T ENSP00000299314.7:n.-187C>T
NM_024312.4:c.-187C>T NP_077288.2:n.-187C>T
XM_006719593.2:c.-187C>T XP_006719656.1:n.-187C>T
NM_024312.5:c.-187C>T MANE Select NP_077288.2:n.-187C>T
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