Canonical Allele Identifier: CA6746734

Gene: GNPTAB

Linked Data

• dbSNP Id: rs765752960
• ExAC: 12:102164281 T / C
• gnomAD v2: 12-102164281-T-C
• gnomAD v3: 12-101770503-T-C
• gnomAD v4: 12-101770503-T-C
• MyVariant Identifiers: chr12:g.102164281T>C (hg19) ; chr12:g.101770503T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101770503T>C , CM000674.2:g.101770503T>C	GRCh38
NC_000012.11:g.102164281T>C , CM000674.1:g.102164281T>C	GRCh37
NC_000012.10:g.100688412T>C	NCBI36
NG_021243.1:g.65365A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000299314.12:c.1016A>G MANE Select	ENSP00000299314.7:p.His339Arg
ENST00000299314.11:c.1016A>G	ENSP00000299314.7:p.His339Arg
ENST00000549940.5:c.1016A>G	ENSP00000449150.1:p.His339Arg
NM_024312.4:c.1016A>G	NP_077288.2:p.His339Arg
XM_006719593.2:c.1016A>G	XP_006719656.1:p.His339Arg
XM_011538731.1:c.935A>G	XP_011537033.1:p.His312Arg
XM_006719593.3:c.1016A>G	XP_006719656.1:p.His339Arg
XM_011538731.2:c.935A>G	XP_011537033.1:p.His312Arg
XM_017019961.1:c.800A>G	XP_016875450.1:p.His267Arg
XM_017019962.2:c.-212A>G	XP_016875451.1:n.-212A>G
NM_024312.5:c.1016A>G MANE Select	NP_077288.2:p.His339Arg