Canonical Allele Identifier: CA2620445301
Gene: GNPTAB HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.101785840C>A , CM000674.2:g.101785840C>A GRCh38
NC_000012.11:g.102179618C>A , CM000674.1:g.102179618C>A GRCh37
NC_000012.10:g.100703749C>A NCBI36
NG_021243.1:g.50028G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000299314.12:c.571+172G>T MANE Select ENSP00000299314.7:n.571+172G>T
ENST00000299314.11:c.571+172G>T ENSP00000299314.7:n.571+172G>T
ENST00000549940.5:c.571+172G>T ENSP00000449150.1:n.571+172G>T
ENST00000550352.1:n.537G>T
ENST00000552681.1:c.205+172G>T ENSP00000449217.1:n.205+172G>T
NM_024312.4:c.571+172G>T NP_077288.2:n.571+172G>T
XM_006719593.2:c.571+172G>T XP_006719656.1:n.571+172G>T
XM_011538731.1:c.490+172G>T XP_011537033.1:n.490+172G>T
XM_006719593.3:c.571+172G>T XP_006719656.1:n.571+172G>T
XM_011538731.2:c.490+172G>T XP_011537033.1:n.490+172G>T
XM_017019961.1:c.355+172G>T XP_016875450.1:n.355+172G>T
XM_017019962.2:c.-780+172G>T XP_016875451.1:n.-780+172G>T
NM_024312.5:c.571+172G>T MANE Select NP_077288.2:n.571+172G>T