Canonical Allele Identifier: CA617197359

Gene: ACTC1 GJD2-DT

Linked Data

• dbSNP Id: rs550695315
• gnomAD v2: 15-35085418-C-A
• gnomAD v4: 15-34793217-C-A
• MyVariant Identifiers: chr15:g.35085418C>A (hg19) ; chr15:g.34793217C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34793217C>A , CM000677.2:g.34793217C>A	GRCh38
NC_000015.9:g.35085418C>A , CM000677.1:g.35085418C>A	GRCh37
NC_000015.8:g.32872710C>A	NCBI36
NG_007553.1:g.7510G>T , LRG_388:g.7510G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560563.2:n.560+28G>T (ACTC1)
ENST00000290378.6:c.454+28G>T (ACTC1) MANE Select	ENSP00000290378.4:n.454+28G>T
ENST00000647798.1:n.548+81G>T (ACTC1)
ENST00000648556.1:n.611+28G>T (ACTC1)
ENST00000650163.1:n.534+28G>T (ACTC1)
ENST00000290378.4:c.454+28G>T (ACTC1)	ENSP00000290378.4:n.454+28G>T
NM_005159.4:c.454+28G>T , LRG_388t1:c.454+28G>T (ACTC1)	NP_005150.1:n.454+28G>T
NR_120329.1:n.299+15786C>A (GJD2-DT)
NM_005159.5:c.454+28G>T (ACTC1) MANE Select	NP_005150.1:n.454+28G>T