Canonical Allele Identifier: CA222894124
Gene: TMEM216 HGNC NCBI

Linked Data

ClinVar Variation Id: 878303
ClinVar RCV Id: RCV001104748 RCV001104747
dbSNP Id: rs139151563
gnomAD v3: 11-61392347-A-G
gnomAD v4: 11-61392347-A-G
MyVariant Identifiers: chr11:g.61159819A>G (hg19) chr11:g.61392347A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.61392347A>G , CM000673.2:g.61392347A>G GRCh38
NC_000011.9:g.61159819A>G , CM000673.1:g.61159819A>G GRCh37
NC_000011.8:g.60916395A>G NCBI36
NG_032976.1:g.4988A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000515837.6:c.-285A>G ENSP00000440638.1:n.-285A>G
XM_005274039.3:c.-616A>G XP_005274096.1:n.-616A>G
XM_005274039.4:c.-616A>G XP_005274096.1:n.-616A>G
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