Canonical Allele Identifier: CA2627663516

Gene: ACTC1 GJD2-DT

Linked Data

• gnomAD v4: 15-34794671-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34794671G>A , CM000677.2:g.34794671G>A	GRCh38
NC_000015.9:g.35086872G>A , CM000677.1:g.35086872G>A	GRCh37
NC_000015.8:g.32874164G>A	NCBI36
NG_007553.1:g.6056C>T , LRG_388:g.6056C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560563.2:n.235+9C>T (ACTC1)
ENST00000290378.6:c.129+9C>T (ACTC1) MANE Select	ENSP00000290378.4:n.129+9C>T
ENST00000290378.4:c.129+9C>T (ACTC1)	ENSP00000290378.4:n.129+9C>T
NM_005159.4:c.129+9C>T , LRG_388t1:c.129+9C>T (ACTC1)	NP_005150.1:n.129+9C>T
NR_120329.1:n.300-15825G>A (GJD2-DT)
NM_005159.5:c.129+9C>T (ACTC1) MANE Select	NP_005150.1:n.129+9C>T