Canonical Allele Identifier: CA372292025

Gene: DNAAF11

Linked Data

• MyVariant Identifiers: chr8:g.133584717A>G (hg19) ; chr8:g.132572469A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.132572469A>G , CM000670.2:g.132572469A>G	GRCh38
NC_000008.10:g.133584717A>G , CM000670.1:g.133584717A>G	GRCh37
NC_000008.9:g.133653899A>G	NCBI36
NG_033068.1:g.108147T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000620350.5:c.1238T>C MANE Select	ENSP00000484634.1:p.Met413Thr
ENST00000250173.5:c.*102T>C	ENSP00000250173.2:n.*102T>C
ENST00000518642.5:c.*102T>C	ENSP00000428610.1:n.*102T>C
ENST00000519595.5:c.1238T>C	ENSP00000429791.1:p.Met413Thr
ENST00000522597.1:n.507T>C
ENST00000522789.5:c.458T>C	ENSP00000428015.1:p.Met153Thr
ENST00000618342.1:c.1238T>C	ENSP00000484802.1:p.Met413Thr
ENST00000620350.4:c.1238T>C	ENSP00000484634.1:p.Met413Thr
NM_012472.4:c.1238T>C	NP_036604.2:p.Met413Thr
NR_073525.1:n.1462T>C
XM_006716538.2:c.1256T>C	XP_006716601.2:p.Met419Thr
XM_011516950.1:c.1196T>C	XP_011515252.1:p.Met399Thr
XM_011516952.1:c.992T>C	XP_011515254.1:p.Met331Thr
XM_011516953.1:c.878T>C	XP_011515255.1:p.Met293Thr
XM_011516954.1:c.878T>C	XP_011515256.1:p.Met293Thr
XR_428377.2:n.1490T>C
NM_001321961.1:c.1178T>C	NP_001308890.1:p.Met393Thr
NM_001321962.1:c.992T>C	NP_001308891.1:p.Met331Thr
NM_001321963.1:c.878T>C	NP_001308892.1:p.Met293Thr
NM_001321964.1:c.878T>C	NP_001308893.1:p.Met293Thr
NM_001321965.1:c.878T>C	NP_001308894.1:p.Met293Thr
NM_001321966.1:c.818T>C	NP_001308895.1:p.Met273Thr
NM_012472.5:c.1238T>C	NP_036604.2:p.Met413Thr
NR_073525.2:n.1462T>C
NR_135905.1:n.1451T>C
NR_135906.1:n.892T>C
NR_135907.1:n.1138T>C
NR_135908.1:n.832T>C
NR_135909.1:n.1256T>C
NR_135910.1:n.1563T>C
NR_135911.1:n.1642T>C
NR_135912.1:n.2201T>C
NR_135913.1:n.1888T>C
XM_006716538.3:c.1256T>C	XP_006716601.2:p.Met419Thr
XM_011516950.2:c.1196T>C	XP_011515252.1:p.Met399Thr
XM_017013296.1:c.1136T>C	XP_016868785.1:p.Met379Thr
XM_017013297.1:c.878T>C	XP_016868786.1:p.Met293Thr
XM_017013298.1:c.878T>C	XP_016868787.1:p.Met293Thr
NM_012472.6:c.1238T>C MANE Select	NP_036604.2:p.Met413Thr
NM_001321961.2:c.1178T>C	NP_001308890.1:p.Met393Thr
NM_001321962.2:c.992T>C	NP_001308891.1:p.Met331Thr
NM_001321963.2:c.878T>C	NP_001308892.1:p.Met293Thr
NM_001321964.2:c.878T>C	NP_001308893.1:p.Met293Thr
NM_001321965.2:c.878T>C	NP_001308894.1:p.Met293Thr
NM_001321966.2:c.818T>C	NP_001308895.1:p.Met273Thr
NR_073525.3:n.1390T>C
NR_135905.2:n.1379T>C
NR_135906.2:n.820T>C
NR_135907.2:n.1066T>C
NR_135908.2:n.760T>C
NR_135909.2:n.1276T>C
NR_135910.2:n.1626T>C
NR_135911.2:n.1746T>C
NR_135912.2:n.2305T>C
NR_135913.2:n.1992T>C