Canonical Allele Identifier: CA2627662053

Gene: ACTC1 GJD2-DT

Linked Data

• gnomAD v4: 15-34790630-T-A

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34790630T>A , CM000677.2:g.34790630T>A	GRCh38
NC_000015.9:g.35082831T>A , CM000677.1:g.35082831T>A	GRCh37
NC_000015.8:g.32870123T>A	NCBI36
NG_007553.1:g.10097A>T , LRG_388:g.10097A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560563.2:n.1891-75A>T (ACTC1)
ENST00000290378.6:c.991-75A>T (ACTC1) MANE Select	ENSP00000290378.4:n.991-75A>T
ENST00000647798.1:n.1085-75A>T (ACTC1)
ENST00000650163.1:n.1071-75A>T (ACTC1)
ENST00000290378.4:c.991-75A>T (ACTC1)	ENSP00000290378.4:n.991-75A>T
NM_005159.4:c.991-75A>T , LRG_388t1:c.991-75A>T (ACTC1)	NP_005150.1:n.991-75A>T
NR_120329.1:n.299+13199T>A (GJD2-DT)
NM_005159.5:c.991-75A>T (ACTC1) MANE Select	NP_005150.1:n.991-75A>T