Canonical Allele Identifier: CA386293193

Gene: GNPTAB

Linked Data

• MyVariant Identifiers: chr12:g.102151029T>C (hg19) ; chr12:g.101757251T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101757251T>C , CM000674.2:g.101757251T>C	GRCh38
NC_000012.11:g.102151029T>C , CM000674.1:g.102151029T>C	GRCh37
NC_000012.10:g.100675160T>C	NCBI36
NG_021243.1:g.78617A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.3395A>G MANE Select	ENSP00000299314.7:p.His1132Arg
ENST00000299314.11:c.3395A>G	ENSP00000299314.7:p.His1132Arg
ENST00000549194.1:n.261A>G
ENST00000549738.5:c.146A>G	ENSP00000450161.1:p.His49Arg
ENST00000550718.1:c.207A>G
NM_024312.4:c.3395A>G	NP_077288.2:p.His1132Arg
XM_006719593.2:c.3395A>G	XP_006719656.1:p.His1132Arg
XM_011538731.1:c.3314A>G	XP_011537033.1:p.His1105Arg
XM_006719593.3:c.3395A>G	XP_006719656.1:p.His1132Arg
XM_011538731.2:c.3314A>G	XP_011537033.1:p.His1105Arg
XM_017019961.1:c.3179A>G	XP_016875450.1:p.His1060Arg
XM_017019962.2:c.2168A>G	XP_016875451.1:p.His723Arg
NM_024312.5:c.3395A>G MANE Select	NP_077288.2:p.His1132Arg