Canonical Allele Identifier: CA2627663469

Gene: ACTC1 GJD2-DT

Linked Data

• gnomAD v4: 15-34794596-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34794596C>G , CM000677.2:g.34794596C>G	GRCh38
NC_000015.9:g.35086797C>G , CM000677.1:g.35086797C>G	GRCh37
NC_000015.8:g.32874089C>G	NCBI36
NG_007553.1:g.6131G>C , LRG_388:g.6131G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000560563.2:n.235+84G>C (ACTC1)
ENST00000290378.6:c.129+84G>C (ACTC1) MANE Select	ENSP00000290378.4:n.129+84G>C
ENST00000290378.4:c.129+84G>C (ACTC1)	ENSP00000290378.4:n.129+84G>C
NM_005159.4:c.129+84G>C , LRG_388t1:c.129+84G>C (ACTC1)	NP_005150.1:n.129+84G>C
NR_120329.1:n.300-15900C>G (GJD2-DT)
NM_005159.5:c.129+84G>C (ACTC1) MANE Select	NP_005150.1:n.129+84G>C