Canonical Allele Identifier: CA386294884

Gene: GNPTAB

Linked Data

• MyVariant Identifiers: chr12:g.102153899A>C (hg19) ; chr12:g.101760121A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101760121A>C , CM000674.2:g.101760121A>C	GRCh38
NC_000012.11:g.102153899A>C , CM000674.1:g.102153899A>C	GRCh37
NC_000012.10:g.100678030A>C	NCBI36
NG_021243.1:g.75747T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000299314.12:c.3158T>G MANE Select	ENSP00000299314.7:p.Met1053Arg
ENST00000299314.11:c.3158T>G	ENSP00000299314.7:p.Met1053Arg
ENST00000549194.1:n.24T>G
NM_024312.4:c.3158T>G	NP_077288.2:p.Met1053Arg
XM_006719593.2:c.3158T>G	XP_006719656.1:p.Met1053Arg
XM_011538731.1:c.3077T>G	XP_011537033.1:p.Met1026Arg
XM_006719593.3:c.3158T>G	XP_006719656.1:p.Met1053Arg
XM_011538731.2:c.3077T>G	XP_011537033.1:p.Met1026Arg
XM_017019961.1:c.2942T>G	XP_016875450.1:p.Met981Arg
XM_017019962.2:c.1931T>G	XP_016875451.1:p.Met644Arg
NM_024312.5:c.3158T>G MANE Select	NP_077288.2:p.Met1053Arg