Canonical Allele Identifier: CA239560871

Gene: TRHDE

Linked Data

• dbSNP Id: rs531320638
• gnomAD v2: 12-72723976-A-G
• gnomAD v3: 12-72330196-A-G
• gnomAD v4: 12-72330196-A-G
• MyVariant Identifiers: chr12:g.72723976A>G (hg19) ; chr12:g.72330196A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.72330196A>G , CM000674.2:g.72330196A>G	GRCh38
NC_000012.11:g.72723976A>G , CM000674.1:g.72723976A>G	GRCh37
NC_000012.10:g.71010243A>G	NCBI36
NG_046971.1:g.62617A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000261180.10:c.1188+43242A>G MANE Select	ENSP00000261180.5:n.1188+43242A>G
ENST00000547300.2:c.1188+43242A>G	ENSP00000447822.2:n.1188+43242A>G
ENST00000261180.9:c.1053+43242A>G	ENSP00000261180.4:n.1053+43242A>G
ENST00000261180.8:c.1053+43242A>G	ENSP00000261180.4:n.1053+43242A>G
ENST00000547300.1:c.349+43242A>G
ENST00000548156.1:n.280-47799A>G
NM_013381.2:c.1053+43242A>G	NP_037513.1:n.1053+43242A>G
XM_005268819.3:c.1188+43242A>G	XP_005268876.1:n.1188+43242A>G
XR_944529.1:n.1251+43242A>G
XM_005268819.5:c.1053+43242A>G	XP_005268876.2:n.1053+43242A>G
XM_017019243.2:c.1053+43242A>G	XP_016874732.2:n.1053+43242A>G
XM_017019244.1:c.144+43242A>G	XP_016874733.1:n.144+43242A>G
NM_013381.3:c.1188+43242A>G MANE Select	NP_037513.2:n.1188+43242A>G