Canonical Allele Identifier: CA2627663351

Gene: ACTC1 GJD2-DT

Linked Data

• gnomAD v4: 15-34793629-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34793629C>G , CM000677.2:g.34793629C>G	GRCh38
NC_000015.9:g.35085830C>G , CM000677.1:g.35085830C>G	GRCh37
NC_000015.8:g.32873122C>G	NCBI36
NG_007553.1:g.7098G>C , LRG_388:g.7098G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560563.2:n.236-60G>C (ACTC1)
ENST00000290378.6:c.130-60G>C (ACTC1) MANE Select	ENSP00000290378.4:n.130-60G>C
ENST00000647798.1:n.277-60G>C (ACTC1)
ENST00000648556.1:n.287-60G>C (ACTC1)
ENST00000650163.1:n.210-60G>C (ACTC1)
ENST00000290378.4:c.130-60G>C (ACTC1)	ENSP00000290378.4:n.130-60G>C
NM_005159.4:c.130-60G>C , LRG_388t1:c.130-60G>C (ACTC1)	NP_005150.1:n.130-60G>C
NR_120329.1:n.299+16198C>G (GJD2-DT)
NM_005159.5:c.130-60G>C (ACTC1) MANE Select	NP_005150.1:n.130-60G>C