Canonical Allele Identifier: CA386294886
Gene: GNPTAB HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.101760122T>A , CM000674.2:g.101760122T>A GRCh38
NC_000012.11:g.102153900T>A , CM000674.1:g.102153900T>A GRCh37
NC_000012.10:g.100678031T>A NCBI36
NG_021243.1:g.75746A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000299314.12:c.3157A>T MANE Select ENSP00000299314.7:p.Met1053Leu
ENST00000299314.11:c.3157A>T ENSP00000299314.7:p.Met1053Leu
ENST00000549194.1:n.23A>T
NM_024312.4:c.3157A>T NP_077288.2:p.Met1053Leu
XM_006719593.2:c.3157A>T XP_006719656.1:p.Met1053Leu
XM_011538731.1:c.3076A>T XP_011537033.1:p.Met1026Leu
XM_006719593.3:c.3157A>T XP_006719656.1:p.Met1053Leu
XM_011538731.2:c.3076A>T XP_011537033.1:p.Met1026Leu
XM_017019961.1:c.2941A>T XP_016875450.1:p.Met981Leu
XM_017019962.2:c.1930A>T XP_016875451.1:p.Met644Leu
NM_024312.5:c.3157A>T MANE Select NP_077288.2:p.Met1053Leu