Canonical Allele Identifier: CA2730707615

Gene: ACTC1 GJD2-DT

Linked Data

• dbSNP Id: rs2140432860

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34794321T>C , CM000677.2:g.34794321T>C	GRCh38
NC_000015.9:g.35086522T>C , CM000677.1:g.35086522T>C	GRCh37
NC_000015.8:g.32873814T>C	NCBI36
NG_007553.1:g.6406A>G , LRG_388:g.6406A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560563.2:n.235+359A>G (ACTC1)
ENST00000290378.6:c.129+359A>G (ACTC1) MANE Select	ENSP00000290378.4:n.129+359A>G
ENST00000290378.4:c.129+359A>G (ACTC1)	ENSP00000290378.4:n.129+359A>G
NM_005159.4:c.129+359A>G , LRG_388t1:c.129+359A>G (ACTC1)	NP_005150.1:n.129+359A>G
NR_120329.1:n.300-16175T>C (GJD2-DT)
NM_005159.5:c.129+359A>G (ACTC1) MANE Select	NP_005150.1:n.129+359A>G