Canonical Allele Identifier: CA375693612

Gene: SURF1

Linked Data

• dbSNP Id: rs2130007027
• gnomAD v4: 9-133352454-G-A
• MyVariant Identifiers: chr9:g.133352454G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133352454G>A , CM000671.2:g.133352454G>A	GRCh38
NC_000009.10:g.135209130G>A	NCBI36
NG_008477.1:g.9053C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371974.8:c.743C>T MANE Select	ENSP00000361042.3:p.Ala248Val
ENST00000371974.7:c.743C>T	ENSP00000361042.3:p.Ala248Val
ENST00000437995.1:n.653C>T
ENST00000495952.5:n.733C>T
ENST00000615505.4:c.416C>T	ENSP00000482067.1:p.Ala139Val
NM_001280787.1:c.416C>T	NP_001267716.1:p.Ala139Val
NM_003172.3:c.743C>T	NP_003163.1:p.Ala248Val
XM_011518942.1:c.416C>T	XP_011517244.1:p.Ala139Val
NM_003172.4:c.743C>T MANE Select	NP_003163.1:p.Ala248Val