Canonical Allele Identifier: CA386292284
Gene: GNPTAB HGNC NCBI

Linked Data

MyVariant Identifiers: chr12:g.102147198G>C (hg19) chr12:g.101753420G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.101753420G>C , CM000674.2:g.101753420G>C GRCh38
NC_000012.11:g.102147198G>C , CM000674.1:g.102147198G>C GRCh37
NC_000012.10:g.100671329G>C NCBI36
NG_021243.1:g.82448C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000299314.12:c.3554C>G MANE Select ENSP00000299314.7:p.Pro1185Arg
ENST00000299314.11:c.3554C>G ENSP00000299314.7:p.Pro1185Arg
ENST00000549738.5:c.452C>G ENSP00000450161.1:n.452C>G
NM_024312.4:c.3554C>G NP_077288.2:p.Pro1185Arg
XM_011538731.1:c.3473C>G XP_011537033.1:p.Pro1158Arg
XM_011538731.2:c.3473C>G XP_011537033.1:p.Pro1158Arg
XM_017019961.1:c.3338C>G XP_016875450.1:p.Pro1113Arg
XM_017019962.2:c.2327C>G XP_016875451.1:p.Pro776Arg
NM_024312.5:c.3554C>G MANE Select NP_077288.2:p.Pro1185Arg
Search 100 bp 5'
Search 100 bp 3'