Canonical Allele Identifier: CA2627662607

Gene: ACTC1 GJD2-DT

Linked Data

• gnomAD v4: 15-34791592-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34791592A>G , CM000677.2:g.34791592A>G	GRCh38
NC_000015.9:g.35083793A>G , CM000677.1:g.35083793A>G	GRCh37
NC_000015.8:g.32871085A>G	NCBI36
NG_007553.1:g.9135T>C , LRG_388:g.9135T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560563.2:n.1412T>C (ACTC1)
ENST00000290378.6:c.809-297T>C (ACTC1) MANE Select	ENSP00000290378.4:n.809-297T>C
ENST00000647798.1:n.903-297T>C (ACTC1)
ENST00000650163.1:n.889-297T>C (ACTC1)
ENST00000290378.4:c.809-297T>C (ACTC1)	ENSP00000290378.4:n.809-297T>C
ENST00000557860.1:n.499-297T>C (ACTC1)
NM_005159.4:c.809-297T>C , LRG_388t1:c.809-297T>C (ACTC1)	NP_005150.1:n.809-297T>C
NR_120329.1:n.299+14161A>G (GJD2-DT)
NM_005159.5:c.809-297T>C (ACTC1) MANE Select	NP_005150.1:n.809-297T>C