Canonical Allele Identifier: CA6747044
Gene: GNPTAB HGNC NCBI

Linked Data

ClinVar Variation Id: 306824
ClinVar RCV Id: RCV000273306 RCV000326013
dbSNP Id: rs372860805
ExAC: 12:102224486 G / A
gnomAD v2: 12-102224486-G-A
gnomAD v3: 12-101830708-G-A
gnomAD v4: 12-101830708-G-A
MyVariant Identifiers: chr12:g.102224486G>A (hg19) chr12:g.101830708G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.101830708G>A , CM000674.2:g.101830708G>A GRCh38
NC_000012.11:g.102224486G>A , CM000674.1:g.102224486G>A GRCh37
NC_000012.10:g.100748617G>A NCBI36
NG_021243.1:g.5160C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000299314.12:c.-33C>T MANE Select ENSP00000299314.7:n.-33C>T
ENST00000299314.11:c.-33C>T ENSP00000299314.7:n.-33C>T
ENST00000392919.4:c.-33C>T ENSP00000376651.4:n.-33C>T
ENST00000549940.5:c.-33C>T ENSP00000449150.1:n.-33C>T
NM_024312.4:c.-33C>T NP_077288.2:n.-33C>T
XM_006719593.2:c.-33C>T XP_006719656.1:n.-33C>T
XM_006719593.3:c.-33C>T XP_006719656.1:n.-33C>T
XM_017019961.1:c.-182C>T XP_016875450.1:n.-182C>T
XM_017019962.2:c.-1383C>T XP_016875451.1:n.-1383C>T
NM_024312.5:c.-33C>T MANE Select NP_077288.2:n.-33C>T
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