Canonical Allele Identifier: CA2627662533

Gene: ACTC1 GJD2-DT

Linked Data

• gnomAD v4: 15-34791385-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.34791385G>A , CM000677.2:g.34791385G>A	GRCh38
NC_000015.9:g.35083586G>A , CM000677.1:g.35083586G>A	GRCh37
NC_000015.8:g.32870878G>A	NCBI36
NG_007553.1:g.9342C>T , LRG_388:g.9342C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560563.2:n.1619C>T (ACTC1)
ENST00000290378.6:c.809-90C>T (ACTC1) MANE Select	ENSP00000290378.4:n.809-90C>T
ENST00000647798.1:n.903-90C>T (ACTC1)
ENST00000650163.1:n.889-90C>T (ACTC1)
ENST00000290378.4:c.809-90C>T (ACTC1)	ENSP00000290378.4:n.809-90C>T
ENST00000557860.1:n.499-90C>T (ACTC1)
NM_005159.4:c.809-90C>T , LRG_388t1:c.809-90C>T (ACTC1)	NP_005150.1:n.809-90C>T
NR_120329.1:n.299+13954G>A (GJD2-DT)
NM_005159.5:c.809-90C>T (ACTC1) MANE Select	NP_005150.1:n.809-90C>T