Canonical Allele Identifier: CA386294639
Gene: GNPTAB HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.101760058G>C , CM000674.2:g.101760058G>C GRCh38
NC_000012.11:g.102153836G>C , CM000674.1:g.102153836G>C GRCh37
NC_000012.10:g.100677967G>C NCBI36
NG_021243.1:g.75810C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000299314.12:c.3221C>G MANE Select ENSP00000299314.7:p.Thr1074Ser
ENST00000299314.11:c.3221C>G ENSP00000299314.7:p.Thr1074Ser
ENST00000549194.1:n.87C>G
ENST00000550718.1:c.33C>G
NM_024312.4:c.3221C>G NP_077288.2:p.Thr1074Ser
XM_006719593.2:c.3221C>G XP_006719656.1:p.Thr1074Ser
XM_011538731.1:c.3140C>G XP_011537033.1:p.Thr1047Ser
XM_006719593.3:c.3221C>G XP_006719656.1:p.Thr1074Ser
XM_011538731.2:c.3140C>G XP_011537033.1:p.Thr1047Ser
XM_017019961.1:c.3005C>G XP_016875450.1:p.Thr1002Ser
XM_017019962.2:c.1994C>G XP_016875451.1:p.Thr665Ser
NM_024312.5:c.3221C>G MANE Select NP_077288.2:p.Thr1074Ser