Canonical Allele Identifier: CA189409717

Gene: TTC39B

Linked Data

• dbSNP Id: rs955245002
• gnomAD v2: 9-15289516-T-C
• gnomAD v3: 9-15289518-T-C
• gnomAD v4: 9-15289518-T-C
• MyVariant Identifiers: chr9:g.15289516T>C (hg19) ; chr9:g.15289518T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.15289518T>C , CM000671.2:g.15289518T>C	GRCh38
NC_000009.11:g.15289516T>C , CM000671.1:g.15289516T>C	GRCh37
NC_000009.10:g.15279516T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000297615.10:c.42+17566A>G	ENSP00000297615.6:n.42+17566A>G
ENST00000380850.9:c.42+17566A>G	ENSP00000370231.5:n.42+17566A>G
ENST00000512701.7:c.42+17566A>G MANE Select	ENSP00000422496.2:n.42+17566A>G
ENST00000297615.9:c.240+17566A>G	ENSP00000297615.5:n.240+17566A>G
ENST00000380850.8:c.240+17566A>G	ENSP00000370231.4:n.240+17566A>G
ENST00000505732.5:n.277+17566A>G
ENST00000506891.1:c.126+17566A>G	ENSP00000427314.1:n.126+17566A>G
ENST00000512701.6:c.240+17566A>G	ENSP00000422496.1:n.240+17566A>G
NM_001168339.1:c.240+17566A>G	NP_001161811.1:n.240+17566A>G
NM_001168340.1:c.240+17566A>G	NP_001161812.1:n.240+17566A>G
NM_001168341.1:c.240+17566A>G	NP_001161813.1:n.240+17566A>G
NM_152574.2:c.240+17566A>G	NP_689787.2:n.240+17566A>G
XM_011517733.1:c.240+17566A>G	XP_011516035.1:n.240+17566A>G
XM_017014310.1:c.-113+9832A>G	XP_016869799.1:n.-113+9832A>G
XM_017014311.1:c.-222+9832A>G	XP_016869800.1:n.-222+9832A>G
XM_024447422.1:c.-52+9832A>G	XP_024303190.1:n.-52+9832A>G
XR_001746190.1:n.277+17566A>G
NM_001168339.2:c.42+17566A>G	NP_001161811.2:n.42+17566A>G
NM_001168340.2:c.42+17566A>G	NP_001161812.2:n.42+17566A>G
NM_001168341.2:c.42+17566A>G	NP_001161813.2:n.42+17566A>G
NM_152574.3:c.42+17566A>G MANE Select	NP_689787.3:n.42+17566A>G