Canonical Allele Identifier: CA10586209
Gene: GANAB HGNC NCBI

Linked Data

ClinVar Variation Id: 253130
ClinVar RCV Id: RCV000239474
dbSNP Id: rs879255642
MyVariant Identifiers: chr11:g.62398504G>C (hg19) chr11:g.62631032G>C (hg38)
PubMed: PMID:27259053
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.62631032G>C , CM000673.2:g.62631032G>C GRCh38
NC_000011.9:g.62398504G>C , CM000673.1:g.62398504G>C GRCh37
NC_000011.8:g.62155080G>C NCBI36
NG_053018.1:g.20695C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000356638.8:c.1148C>G MANE Select ENSP00000349053.3:p.Thr383Arg
ENST00000648273.1:c.857C>G ENSP00000497655.1:p.Thr286Arg
ENST00000346178.8:c.1214C>G ENSP00000340466.4:p.Thr405Arg
ENST00000356638.7:c.1148C>G ENSP00000349053.3:p.Thr383Arg
ENST00000532402.5:c.*880C>G ENSP00000432181.1:n.*880C>G
ENST00000534779.5:c.872C>G ENSP00000435306.1:p.Thr291Arg
ENST00000540933.5:c.857C>G ENSP00000442962.1:p.Thr286Arg
NM_001278192.1:c.872C>G NP_001265121.1:p.Thr291Arg
NM_001278193.1:c.806C>G NP_001265122.1:p.Thr269Arg
NM_001278194.1:c.857C>G NP_001265123.1:p.Thr286Arg
NM_198334.2:c.1148C>G NP_938148.1:p.Thr383Arg
NM_198335.3:c.1214C>G NP_938149.2:p.Thr405Arg
NM_001329222.1:c.857C>G NP_001316151.1:p.Thr286Arg
NM_001329223.1:c.857C>G NP_001316152.1:p.Thr286Arg
NM_001329224.1:c.425C>G NP_001316153.1:p.Thr142Arg
NM_001329225.1:c.425C>G NP_001316154.1:p.Thr142Arg
XM_017017412.1:c.857C>G XP_016872901.1:p.Thr286Arg
NM_198334.3:c.1148C>G MANE Select NP_938148.1:p.Thr383Arg
NM_001278192.2:c.872C>G NP_001265121.1:p.Thr291Arg
NM_001278193.2:c.806C>G NP_001265122.1:p.Thr269Arg
NM_001329223.2:c.857C>G NP_001316152.1:p.Thr286Arg
NM_001329225.2:c.425C>G NP_001316154.1:p.Thr142Arg
NM_198335.4:c.1214C>G NP_938149.2:p.Thr405Arg
NM_001278194.2:c.857C>G NP_001265123.1:p.Thr286Arg
NM_001329222.2:c.857C>G NP_001316151.1:p.Thr286Arg
NM_001329224.2:c.425C>G NP_001316153.1:p.Thr142Arg
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