Canonical Allele Identifier: CA322228

Gene: SURF1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133352452T>C , CM000671.2:g.133352452T>C	GRCh38
NC_000009.10:g.135209128T>C	NCBI36
NG_008477.1:g.9055A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_003172.4:c.745A>G MANE Select	NP_003163.1:p.Asn249Asp
ENST00000371974.8:c.745A>G MANE Select	ENSP00000361042.3:p.Asn249Asp
NM_001280787.1:c.418A>G	NP_001267716.1:p.Asn140Asp
NM_003172.3:c.745A>G	NP_003163.1:p.Asn249Asp
ENST00000371974.7:c.745A>G	ENSP00000361042.3:p.Asn249Asp
ENST00000437995.1:n.655A>G
ENST00000495952.5:n.735A>G
ENST00000615505.4:c.418A>G	ENSP00000482067.1:p.Asn140Asp
XM_011518942.1:c.418A>G	XP_011517244.1:p.Asn140Asp