Canonical Allele Identifier: CA268660673

Gene: ACTC1 GJD2-DT

Linked Data

• dbSNP Id: rs553612327
• gnomAD v4: 15-34791046-T-A
• MyVariant Identifiers: chr15:g.35083247T>A (hg19) ; chr15:g.34791046T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34791046T>A , CM000677.2:g.34791046T>A	GRCh38
NC_000015.9:g.35083247T>A , CM000677.1:g.35083247T>A	GRCh37
NC_000015.8:g.32870539T>A	NCBI36
NG_007553.1:g.9681A>T , LRG_388:g.9681A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560563.2:n.1890+68A>T (ACTC1)
ENST00000290378.6:c.990+68A>T (ACTC1) MANE Select	ENSP00000290378.4:n.990+68A>T
ENST00000647798.1:n.1084+68A>T (ACTC1)
ENST00000650163.1:n.1070+68A>T (ACTC1)
ENST00000290378.4:c.990+68A>T (ACTC1)	ENSP00000290378.4:n.990+68A>T
NM_005159.4:c.990+68A>T , LRG_388t1:c.990+68A>T (ACTC1)	NP_005150.1:n.990+68A>T
NR_120329.1:n.299+13615T>A (GJD2-DT)
NM_005159.5:c.990+68A>T (ACTC1) MANE Select	NP_005150.1:n.990+68A>T