Canonical Allele Identifier: CA204075

Gene: TRHDE

Linked Data

• ClinVar Variation Id: 207843
• ClinVar RCV Id: RCV000190136
• dbSNP Id: rs796052150
• gnomAD v2: 12-72969085-A-T
• gnomAD v3: 12-72575305-A-T
• gnomAD v4: 12-72575305-A-T
• MyVariant Identifiers: chr12:g.72969085A>T (hg19) ; chr12:g.72575305A>T (hg38)
• PubMed: PMID:26132555

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.72575305A>T , CM000674.2:g.72575305A>T	GRCh38
NC_000012.11:g.72969085A>T , CM000674.1:g.72969085A>T	GRCh37
NC_000012.10:g.71255352A>T	NCBI36
NG_046971.1:g.307726A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261180.10:c.2182A>T MANE Select	ENSP00000261180.5:p.Ile728Phe
ENST00000261180.9:c.2047A>T	ENSP00000261180.4:p.Ile683Phe
ENST00000261180.8:c.2047A>T	ENSP00000261180.4:p.Ile683Phe
ENST00000549138.5:n.611A>T
ENST00000549401.5:n.329A>T
ENST00000549922.1:n.78A>T
NM_013381.2:c.2047A>T	NP_037513.1:p.Ile683Phe
XM_005268819.3:c.2182A>T	XP_005268876.1:p.Ile728Phe
XM_011538248.1:c.832A>T	XP_011536550.1:p.Ile278Phe
XR_944529.1:n.2245A>T
XM_005268819.5:c.2047A>T	XP_005268876.2:p.Ile683Phe
XM_011538248.2:c.832A>T	XP_011536550.1:p.Ile278Phe
XM_017019243.2:c.2047A>T	XP_016874732.2:p.Ile683Phe
XM_017019244.1:c.1138A>T	XP_016874733.1:p.Ile380Phe
NM_013381.3:c.2182A>T MANE Select	NP_037513.2:p.Ile728Phe