Canonical Allele Identifier: CA607383731
Gene: GNPTAB HGNC NCBI

Linked Data

dbSNP Id: rs1388346801
gnomAD v2: 12-102224607-C-G
gnomAD v3: 12-101830829-C-G
gnomAD v4: 12-101830829-C-G
MyVariant Identifiers: chr12:g.102224607C>G (hg19) chr12:g.101830829C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.101830829C>G , CM000674.2:g.101830829C>G GRCh38
NC_000012.11:g.102224607C>G , CM000674.1:g.102224607C>G GRCh37
NC_000012.10:g.100748738C>G NCBI36
NG_021243.1:g.5039G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000299314.12:c.-154G>C MANE Select ENSP00000299314.7:n.-154G>C
ENST00000299314.11:c.-154G>C ENSP00000299314.7:n.-154G>C
ENST00000392919.4:c.-154G>C ENSP00000376651.4:n.-154G>C
NM_024312.4:c.-154G>C NP_077288.2:n.-154G>C
XM_006719593.2:c.-154G>C XP_006719656.1:n.-154G>C
XM_017019961.1:c.-303G>C XP_016875450.1:n.-303G>C
NM_024312.5:c.-154G>C MANE Select NP_077288.2:n.-154G>C
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