Canonical Allele Identifier: CA043153

Gene: ACTC1 GJD2-DT

Linked Data

• dbSNP Id: rs200369344
• ExAC: 15:35083279 C / T
• gnomAD v2: 15-35083279-C-T
• gnomAD v3: 15-34791078-C-T
• gnomAD v4: 15-34791078-C-T
• MyVariant Identifiers: chr15:g.35083279C>T (hg19) ; chr15:g.34791078C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34791078C>T , CM000677.2:g.34791078C>T	GRCh38
NC_000015.9:g.35083279C>T , CM000677.1:g.35083279C>T	GRCh37
NC_000015.8:g.32870571C>T	NCBI36
NG_007553.1:g.9649G>A , LRG_388:g.9649G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000560563.2:n.1890+36G>A (ACTC1)
ENST00000290378.6:c.990+36G>A (ACTC1) MANE Select	ENSP00000290378.4:n.990+36G>A
ENST00000647798.1:n.1084+36G>A (ACTC1)
ENST00000650163.1:n.1070+36G>A (ACTC1)
ENST00000290378.4:c.990+36G>A (ACTC1)	ENSP00000290378.4:n.990+36G>A
NM_005159.4:c.990+36G>A , LRG_388t1:c.990+36G>A (ACTC1)	NP_005150.1:n.990+36G>A
NR_120329.1:n.299+13647C>T (GJD2-DT)
NM_005159.5:c.990+36G>A (ACTC1) MANE Select	NP_005150.1:n.990+36G>A