Canonical Allele Identifier: CA712280433

Gene: ACTC1 GJD2-DT

Linked Data

• dbSNP Id: rs1457383203
• gnomAD v3: 15-34793119-C-T
• gnomAD v4: 15-34793119-C-T
• MyVariant Identifiers: chr15:g.35085320C>T (hg19) ; chr15:g.34793119C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34793119C>T , CM000677.2:g.34793119C>T	GRCh38
NC_000015.9:g.35085320C>T , CM000677.1:g.35085320C>T	GRCh37
NC_000015.8:g.32872612C>T	NCBI36
NG_007553.1:g.7608G>A , LRG_388:g.7608G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560563.2:n.560+126G>A (ACTC1)
ENST00000290378.6:c.454+126G>A (ACTC1) MANE Select	ENSP00000290378.4:n.454+126G>A
ENST00000647798.1:n.548+179G>A (ACTC1)
ENST00000648556.1:n.611+126G>A (ACTC1)
ENST00000650163.1:n.534+126G>A (ACTC1)
ENST00000290378.4:c.454+126G>A (ACTC1)	ENSP00000290378.4:n.454+126G>A
NM_005159.4:c.454+126G>A , LRG_388t1:c.454+126G>A (ACTC1)	NP_005150.1:n.454+126G>A
NR_120329.1:n.299+15688C>T (GJD2-DT)
NM_005159.5:c.454+126G>A (ACTC1) MANE Select	NP_005150.1:n.454+126G>A