Canonical Allele Identifier: CA2726740405

Gene: GNPTAB

Linked Data

• dbSNP Id: rs1286435102

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101830838C>G , CM000674.2:g.101830838C>G	GRCh38
NC_000012.11:g.102224616C>G , CM000674.1:g.102224616C>G	GRCh37
NC_000012.10:g.100748747C>G	NCBI36
NG_021243.1:g.5030G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.-163G>C MANE Select	ENSP00000299314.7:n.-163G>C
ENST00000299314.11:c.-163G>C	ENSP00000299314.7:n.-163G>C
ENST00000392919.4:c.-163G>C	ENSP00000376651.4:n.-163G>C
NM_024312.4:c.-163G>C	NP_077288.2:n.-163G>C
XM_006719593.2:c.-163G>C	XP_006719656.1:n.-163G>C
NM_024312.5:c.-163G>C MANE Select	NP_077288.2:n.-163G>C