Canonical Allele Identifier: CA475493824

Gene: ACTN3

Linked Data

• MyVariant Identifiers: chr11:g.66327770G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.66560299G>C , CM000673.2:g.66560299G>C	GRCh38
NC_000011.9:g.66327770G>C , CM000673.1:g.66327770G>C	GRCh37
NC_000011.8:g.66084346G>C	NCBI36
NG_013304.2:g.18380G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000513398.2:c.1665G>C MANE Select	ENSP00000426797.1:p.Val555=
ENST00000502692.5:c.1794G>C	ENSP00000422007.1:p.Val598=
ENST00000513398.1:c.1665G>C	ENSP00000426797.1:p.Val555=
NM_001104.3:c.1665G>C	NP_001095.2:p.Val555=
NM_001258371.2:c.1794G>C	NP_001245300.2:p.Val598=
NM_001104.4:c.1665G>C MANE Select	NP_001095.2:p.Val555=
NM_001258371.3:c.1794G>C	NP_001245300.2:p.Val598=