Canonical Allele Identifier: CA3536327

Gene: THG1L

Linked Data

• ClinVar Variation Id: 441070
• ClinVar RCV Id: RCV000509418 ; RCV001009629
• dbSNP Id: rs201920319
• ExAC: 5:157158612 T / C
• gnomAD v2: 5-157158612-T-C
• gnomAD v3: 5-157731604-T-C
• gnomAD v4: 5-157731604-T-C
• MyVariant Identifiers: chr5:g.157158612T>C (hg19) ; chr5:g.157731604T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.157731604T>C , CM000667.2:g.157731604T>C	GRCh38
NC_000005.9:g.157158612T>C , CM000667.1:g.157158612T>C	GRCh37
NC_000005.8:g.157091190T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000231198.12:c.164T>C MANE Select	ENSP00000231198.7:p.Val55Ala
ENST00000231198.11:c.164T>C	ENSP00000231198.7:p.Val55Ala
ENST00000521655.1:c.164T>C	ENSP00000428387.1:p.Val55Ala
NM_017872.3:c.164T>C	NP_060342.2:p.Val55Ala
XM_005265939.2:c.-138T>C	XP_005265996.1:n.-138T>C
NM_001317824.1:c.-138T>C	NP_001304753.1:n.-138T>C
NM_001317825.1:c.-208T>C	NP_001304754.1:n.-208T>C
NM_017872.4:c.164T>C	NP_060342.2:p.Val55Ala
NM_017872.5:c.164T>C MANE Select	NP_060342.2:p.Val55Ala
NM_001317824.2:c.-138T>C	NP_001304753.1:n.-138T>C
NM_001317825.2:c.-208T>C	NP_001304754.1:n.-208T>C