Canonical Allele Identifier: CA072379
Gene: TAMALIN HGNC NCBI

Linked Data

ClinVar Variation Id: 221938
ClinVar RCV Id: RCV000207395
dbSNP Id: rs200789033
ExAC: 12:52408879 G / A
gnomAD v2: 12-52408879-G-A
gnomAD v3: 12-52015095-G-A
gnomAD v4: 12-52015095-G-A
MyVariant Identifiers: chr12:g.52408879G>A (hg19) chr12:g.52015095G>A (hg38)
PubMed: PMID:26893459
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52015095G>A , CM000674.2:g.52015095G>A GRCh38
NC_000012.11:g.52408879G>A , CM000674.1:g.52408879G>A GRCh37
NC_000012.10:g.50695146G>A NCBI36
NG_050572.1:g.13159G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000293662.9:c.1084G>A MANE Select ENSP00000293662.4:p.Gly362Ser
ENST00000293662.8:c.1084G>A ENSP00000293662.4:p.Gly362Ser
ENST00000552049.5:c.655G>A ENSP00000449492.1:p.Gly219Ser
ENST00000552508.1:n.821G>A
ENST00000552963.5:n.840G>A
NM_001271856.1:c.655G>A NP_001258785.1:p.Gly219Ser
NM_181711.3:c.1084G>A NP_859062.1:p.Gly362Ser
XM_005268691.3:c.694G>A XP_005268748.1:p.Gly232Ser
XM_011537996.1:c.694G>A XP_011536298.1:p.Gly232Ser
NM_181711.4:c.1084G>A MANE Select NP_859062.1:p.Gly362Ser
NM_001271856.2:c.655G>A NP_001258785.1:p.Gly219Ser
Search 100 bp 5'
Search 100 bp 3'