Canonical Allele Identifier: CA200832385

Gene: SURF1

Linked Data

• dbSNP Id: rs2130007791
• gnomAD v4: 9-133352553-G-A
• MyVariant Identifiers: chr9:g.133352553G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.133352553G>A , CM000671.2:g.133352553G>A	GRCh38
NC_000009.10:g.135209229G>A	NCBI36
NG_008477.1:g.8954C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371974.8:c.644C>T MANE Select	ENSP00000361042.3:p.Pro215Leu
ENST00000371974.7:c.644C>T	ENSP00000361042.3:p.Pro215Leu
ENST00000437995.1:n.554C>T
ENST00000495952.5:n.634C>T
ENST00000615505.4:c.317C>T	ENSP00000482067.1:p.Pro106Leu
NM_001280787.1:c.317C>T	NP_001267716.1:p.Pro106Leu
NM_003172.3:c.644C>T	NP_003163.1:p.Pro215Leu
XM_011518942.1:c.317C>T	XP_011517244.1:p.Pro106Leu
NM_003172.4:c.644C>T MANE Select	NP_003163.1:p.Pro215Leu