Canonical Allele Identifier: CA268663024

Gene: ACTC1 GJD2-DT

Linked Data

• dbSNP Id: rs1051903521
• gnomAD v3: 15-34793069-T-C
• gnomAD v4: 15-34793069-T-C
• MyVariant Identifiers: chr15:g.35085270T>C (hg19) ; chr15:g.34793069T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34793069T>C , CM000677.2:g.34793069T>C	GRCh38
NC_000015.9:g.35085270T>C , CM000677.1:g.35085270T>C	GRCh37
NC_000015.8:g.32872562T>C	NCBI36
NG_007553.1:g.7658A>G , LRG_388:g.7658A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560563.2:n.560+176A>G (ACTC1)
ENST00000290378.6:c.454+176A>G (ACTC1) MANE Select	ENSP00000290378.4:n.454+176A>G
ENST00000647798.1:n.548+229A>G (ACTC1)
ENST00000648556.1:n.611+176A>G (ACTC1)
ENST00000650163.1:n.534+176A>G (ACTC1)
ENST00000290378.4:c.454+176A>G (ACTC1)	ENSP00000290378.4:n.454+176A>G
NM_005159.4:c.454+176A>G , LRG_388t1:c.454+176A>G (ACTC1)	NP_005150.1:n.454+176A>G
NR_120329.1:n.299+15638T>C (GJD2-DT)
NM_005159.5:c.454+176A>G (ACTC1) MANE Select	NP_005150.1:n.454+176A>G