Canonical Allele Identifier: CA11627261
Gene: TIMMDC1 HGNC NCBI

Linked Data

dbSNP Id: rs2293370
gnomAD v2: 3-119219934-G-A
gnomAD v3: 3-119501087-G-A
gnomAD v4: 3-119501087-G-A
MyVariant Identifiers: chr3:g.119219934G>A (hg19) chr3:g.119501087G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.119501087G>A , CM000665.2:g.119501087G>A GRCh38
NC_000003.11:g.119219934G>A , CM000665.1:g.119219934G>A GRCh37
NC_000003.10:g.120702624G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000494664.6:c.360+227G>A MANE Select ENSP00000418803.1:n.360+227G>A
ENST00000264244.7:c.360+227G>A ENSP00000264244.3:n.360+227G>A
ENST00000463927.6:c.*177+227G>A ENSP00000417205.2:n.*177+227G>A
ENST00000466984.1:c.194+2160G>A ENSP00000420122.1:n.194+2160G>A
ENST00000469324.1:n.487+227G>A
ENST00000486418.5:c.194+2160G>A ENSP00000417083.1:n.194+2160G>A
ENST00000492164.5:c.194+2160G>A ENSP00000418846.1:n.194+2160G>A
ENST00000493694.1:c.194+2160G>A ENSP00000419510.1:n.194+2160G>A
ENST00000494664.5:c.360+227G>A ENSP00000418803.1:n.360+227G>A
ENST00000498399.1:c.117+2154G>A
NM_016589.3:c.360+227G>A NP_057673.2:n.360+227G>A
XM_017006556.1:c.194+2160G>A XP_016862045.1:n.194+2160G>A
NM_016589.4:c.360+227G>A MANE Select NP_057673.2:n.360+227G>A
Search 100 bp 5'
Search 100 bp 3'