Canonical Allele Identifier: CA9002055

Gene: TSHZ1

Linked Data

• ClinVar Variation Id: 327819
• ClinVar RCV Id: RCV001528804 ; RCV001840489 ; RCV001785568
• dbSNP Id: rs3809997
• ExAC: 18:72998886 T / C
• gnomAD v2: 18-72998886-T-C
• gnomAD v3: 18-75286931-T-C
• gnomAD v4: 18-75286931-T-C
• MyVariant Identifiers: chr18:g.72998886T>C (hg19) ; chr18:g.75286931T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.75286931T>C , CM000680.2:g.75286931T>C	GRCh38
NC_000018.9:g.72998886T>C , CM000680.1:g.72998886T>C	GRCh37
NC_000018.8:g.71127874T>C	NCBI36
NG_032047.1:g.81177T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000580243.3:c.1524T>C MANE Select	ENSP00000464391.1:p.Pro508=
ENST00000322038.5:c.1389T>C	ENSP00000323584.5:p.Pro463=
ENST00000580243.1:c.1524T>C	ENSP00000464391.1:p.Pro508=
ENST00000584217.1:n.4068T>C
NM_001308210.1:c.1524T>C	NP_001295139.1:p.Pro508=
NM_005786.5:c.1389T>C	NP_005777.3:p.Pro463=
XM_005266641.2:c.1389T>C	XP_005266698.1:p.Pro463=
XM_005266641.3:c.1389T>C	XP_005266698.1:p.Pro463=
NM_001308210.2:c.1524T>C MANE Select	NP_001295139.1:p.Pro508=
NM_005786.6:c.1389T>C	NP_005777.3:p.Pro463=