Canonical Allele Identifier: CA043124

Gene: ACTC1 GJD2-DT

Linked Data

• dbSNP Id: rs368741225
• ExAC: 15:35083287 G / A
• gnomAD v2: 15-35083287-G-A
• gnomAD v3: 15-34791086-G-A
• gnomAD v4: 15-34791086-G-A
• MyVariant Identifiers: chr15:g.35083287G>A (hg19) ; chr15:g.34791086G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34791086G>A , CM000677.2:g.34791086G>A	GRCh38
NC_000015.9:g.35083287G>A , CM000677.1:g.35083287G>A	GRCh37
NC_000015.8:g.32870579G>A	NCBI36
NG_007553.1:g.9641C>T , LRG_388:g.9641C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560563.2:n.1890+28C>T (ACTC1)
ENST00000290378.6:c.990+28C>T (ACTC1) MANE Select	ENSP00000290378.4:n.990+28C>T
ENST00000647798.1:n.1084+28C>T (ACTC1)
ENST00000650163.1:n.1070+28C>T (ACTC1)
ENST00000290378.4:c.990+28C>T (ACTC1)	ENSP00000290378.4:n.990+28C>T
NM_005159.4:c.990+28C>T , LRG_388t1:c.990+28C>T (ACTC1)	NP_005150.1:n.990+28C>T
NR_120329.1:n.299+13655G>A (GJD2-DT)
NM_005159.5:c.990+28C>T (ACTC1) MANE Select	NP_005150.1:n.990+28C>T