Canonical Allele Identifier: CA6746245

Gene: GNPTAB

Linked Data

• dbSNP Id: rs767066788
• ExAC: 12:102153902 T / C
• gnomAD v2: 12-102153902-T-C
• gnomAD v4: 12-101760124-T-C
• MyVariant Identifiers: chr12:g.102153902T>C (hg19) ; chr12:g.101760124T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101760124T>C , CM000674.2:g.101760124T>C	GRCh38
NC_000012.11:g.102153902T>C , CM000674.1:g.102153902T>C	GRCh37
NC_000012.10:g.100678033T>C	NCBI36
NG_021243.1:g.75744A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000299314.12:c.3155A>G MANE Select	ENSP00000299314.7:p.His1052Arg
ENST00000299314.11:c.3155A>G	ENSP00000299314.7:p.His1052Arg
ENST00000549194.1:n.21A>G
NM_024312.4:c.3155A>G	NP_077288.2:p.His1052Arg
XM_006719593.2:c.3155A>G	XP_006719656.1:p.His1052Arg
XM_011538731.1:c.3074A>G	XP_011537033.1:p.His1025Arg
XM_006719593.3:c.3155A>G	XP_006719656.1:p.His1052Arg
XM_011538731.2:c.3074A>G	XP_011537033.1:p.His1025Arg
XM_017019961.1:c.2939A>G	XP_016875450.1:p.His980Arg
XM_017019962.2:c.1928A>G	XP_016875451.1:p.His643Arg
NM_024312.5:c.3155A>G MANE Select	NP_077288.2:p.His1052Arg