Canonical Allele Identifier: CA375694077

Gene: SURF1

Linked Data

• ClinVar Variation Id: 520389
• ClinVar RCV Id: RCV000754103
• dbSNP Id: rs587753385
• MyVariant Identifiers: chr9:g.133352750T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133352750T>A , CM000671.2:g.133352750T>A	GRCh38
NC_000009.10:g.135209426T>A	NCBI36
NG_008477.1:g.8757A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000371974.8:c.532A>T MANE Select	ENSP00000361042.3:p.Asn178Tyr
ENST00000371974.7:c.532A>T	ENSP00000361042.3:p.Asn178Tyr
ENST00000437995.1:n.462-20A>T
ENST00000495952.5:n.522A>T
ENST00000615505.4:c.205A>T	ENSP00000482067.1:p.Asn69Tyr
NM_001280787.1:c.205A>T	NP_001267716.1:p.Asn69Tyr
NM_003172.3:c.532A>T	NP_003163.1:p.Asn178Tyr
XM_011518942.1:c.205A>T	XP_011517244.1:p.Asn69Tyr
NM_003172.4:c.532A>T MANE Select	NP_003163.1:p.Asn178Tyr