Canonical Allele Identifier: CA860379049

Gene: TOR1A

Linked Data

• dbSNP Id: rs1244794556
• gnomAD v3: 9-129819079-T-C
• gnomAD v4: 9-129819079-T-C
• MyVariant Identifiers: chr9:g.132581358T>C (hg19) ; chr9:g.129819079T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.129819079T>C , CM000671.2:g.129819079T>C	GRCh38
NC_000009.11:g.132581358T>C , CM000671.1:g.132581358T>C	GRCh37
NC_000009.10:g.131621179T>C	NCBI36
NG_008049.1:g.10084A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000351698.5:c.445-159A>G MANE Select	ENSP00000345719.4:n.445-159A>G
ENST00000651202.1:c.541-159A>G	ENSP00000498222.1:n.541-159A>G
ENST00000351698.4:c.445-159A>G	ENSP00000345719.4:n.445-159A>G
ENST00000473604.2:n.555-159A>G
NM_000113.2:c.445-159A>G	NP_000104.1:n.445-159A>G
XR_929731.1:n.605-159A>G
XR_929731.3:n.473-159A>G
NM_000113.3:c.445-159A>G MANE Select	NP_000104.1:n.445-159A>G