Canonical Allele Identifier: CA968569744

Gene: ACTC1 GJD2-DT

Linked Data

• dbSNP Id: rs1310293291
• gnomAD v3: 15-34791570-G-C
• gnomAD v4: 15-34791570-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34791570G>C , CM000677.2:g.34791570G>C	GRCh38
NC_000015.9:g.35083771G>C , CM000677.1:g.35083771G>C	GRCh37
NC_000015.8:g.32871063G>C	NCBI36
NG_007553.1:g.9157C>G , LRG_388:g.9157C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560563.2:n.1434C>G (ACTC1)
ENST00000290378.6:c.809-275C>G (ACTC1) MANE Select	ENSP00000290378.4:n.809-275C>G
ENST00000647798.1:n.903-275C>G (ACTC1)
ENST00000650163.1:n.889-275C>G (ACTC1)
ENST00000290378.4:c.809-275C>G (ACTC1)	ENSP00000290378.4:n.809-275C>G
ENST00000557860.1:n.499-275C>G (ACTC1)
NM_005159.4:c.809-275C>G , LRG_388t1:c.809-275C>G (ACTC1)	NP_005150.1:n.809-275C>G
NR_120329.1:n.299+14139G>C (GJD2-DT)
NM_005159.5:c.809-275C>G (ACTC1) MANE Select	NP_005150.1:n.809-275C>G