Canonical Allele Identifier: CA410387082

Gene: NDUFV3

Linked Data

• MyVariant Identifiers: chr21:g.44317156A>T (hg19) ; chr21:g.42897046A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.42897046A>T , CM000683.2:g.42897046A>T	GRCh38
NC_000021.8:g.44317156A>T , CM000683.1:g.44317156A>T	GRCh37
NC_000021.7:g.43190225A>T	NCBI36
NG_042281.1:g.8779A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354250.7:c.168A>T MANE Select	ENSP00000346196.2:p.Lys56Asn
ENST00000340344.4:c.168A>T	ENSP00000342895.3:p.Lys56Asn
ENST00000354250.6:c.168A>T	ENSP00000346196.2:p.Lys56Asn
ENST00000460259.1:n.691A>T
ENST00000460740.1:n.61+3665A>T
NM_001001503.1:c.168A>T	NP_001001503.1:p.Lys56Asn
NM_021075.3:c.168A>T	NP_066553.3:p.Lys56Asn
XM_011529586.1:c.168A>T	XP_011527888.1:p.Lys56Asn
XM_011529586.2:c.168A>T	XP_011527888.1:p.Lys56Asn
XM_017028359.1:c.168A>T	XP_016883848.1:p.Lys56Asn
NM_021075.4:c.168A>T MANE Select	NP_066553.3:p.Lys56Asn
NM_001001503.2:c.168A>T	NP_001001503.1:p.Lys56Asn