Canonical Allele Identifier: CA6746485

Gene: GNPTAB

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.101764889C>T , CM000674.2:g.101764889C>T	GRCh38
NC_000012.11:g.102158667C>T , CM000674.1:g.102158667C>T	GRCh37
NC_000012.10:g.100682798C>T	NCBI36
NG_021243.1:g.70979G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000299314.12:c.2028G>A MANE Select	ENSP00000299314.7:p.Pro676=
ENST00000299314.11:c.2028G>A	ENSP00000299314.7:p.Pro676=
NM_024312.4:c.2028G>A	NP_077288.2:p.Pro676=
XM_006719593.2:c.2028G>A	XP_006719656.1:p.Pro676=
XM_011538731.1:c.1947G>A	XP_011537033.1:p.Pro649=
XM_006719593.3:c.2028G>A	XP_006719656.1:p.Pro676=
XM_011538731.2:c.1947G>A	XP_011537033.1:p.Pro649=
XM_017019961.1:c.1812G>A	XP_016875450.1:p.Pro604=
XM_017019962.2:c.801G>A	XP_016875451.1:p.Pro267=
NM_024312.5:c.2028G>A MANE Select	NP_077288.2:p.Pro676=