Canonical Allele Identifier: CA2613835906
Gene: TMEM216 HGNC NCBI

Linked Data

gnomAD v4: 11-61392387-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.61392387G>T , CM000673.2:g.61392387G>T GRCh38
NC_000011.9:g.61159859G>T , CM000673.1:g.61159859G>T GRCh37
NC_000011.8:g.60916435G>T NCBI36
NG_032976.1:g.5028G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000334888.9:c.-245G>T ENSP00000334844.5:n.-245G>T
ENST00000515837.6:c.-245G>T ENSP00000440638.1:n.-245G>T
NM_001173990.2:c.-245G>T NP_001167461.1:n.-245G>T
NM_001173991.2:c.-245G>T NP_001167462.1:n.-245G>T
XM_005274039.3:c.-576G>T XP_005274096.1:n.-576G>T
NM_001330285.1:c.-442G>T NP_001317214.1:n.-442G>T
XM_005274039.4:c.-576G>T XP_005274096.1:n.-576G>T
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