Canonical Allele Identifier: CA372292022

Gene: DNAAF11

Linked Data

• MyVariant Identifiers: chr8:g.133584716C>G (hg19) ; chr8:g.132572468C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.132572468C>G , CM000670.2:g.132572468C>G	GRCh38
NC_000008.10:g.133584716C>G , CM000670.1:g.133584716C>G	GRCh37
NC_000008.9:g.133653898C>G	NCBI36
NG_033068.1:g.108148G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000620350.5:c.1239G>C MANE Select	ENSP00000484634.1:p.Met413Ile
ENST00000250173.5:c.*103G>C	ENSP00000250173.2:n.*103G>C
ENST00000518642.5:c.*103G>C	ENSP00000428610.1:n.*103G>C
ENST00000519595.5:c.1239G>C	ENSP00000429791.1:p.Met413Ile
ENST00000522597.1:n.508G>C
ENST00000522789.5:c.459G>C	ENSP00000428015.1:p.Met153Ile
ENST00000618342.1:c.1239G>C	ENSP00000484802.1:p.Met413Ile
ENST00000620350.4:c.1239G>C	ENSP00000484634.1:p.Met413Ile
NM_012472.4:c.1239G>C	NP_036604.2:p.Met413Ile
NR_073525.1:n.1463G>C
XM_006716538.2:c.1257G>C	XP_006716601.2:p.Met419Ile
XM_011516950.1:c.1197G>C	XP_011515252.1:p.Met399Ile
XM_011516952.1:c.993G>C	XP_011515254.1:p.Met331Ile
XM_011516953.1:c.879G>C	XP_011515255.1:p.Met293Ile
XM_011516954.1:c.879G>C	XP_011515256.1:p.Met293Ile
XR_428377.2:n.1491G>C
NM_001321961.1:c.1179G>C	NP_001308890.1:p.Met393Ile
NM_001321962.1:c.993G>C	NP_001308891.1:p.Met331Ile
NM_001321963.1:c.879G>C	NP_001308892.1:p.Met293Ile
NM_001321964.1:c.879G>C	NP_001308893.1:p.Met293Ile
NM_001321965.1:c.879G>C	NP_001308894.1:p.Met293Ile
NM_001321966.1:c.819G>C	NP_001308895.1:p.Met273Ile
NM_012472.5:c.1239G>C	NP_036604.2:p.Met413Ile
NR_073525.2:n.1463G>C
NR_135905.1:n.1452G>C
NR_135906.1:n.893G>C
NR_135907.1:n.1139G>C
NR_135908.1:n.833G>C
NR_135909.1:n.1257G>C
NR_135910.1:n.1564G>C
NR_135911.1:n.1643G>C
NR_135912.1:n.2202G>C
NR_135913.1:n.1889G>C
XM_006716538.3:c.1257G>C	XP_006716601.2:p.Met419Ile
XM_011516950.2:c.1197G>C	XP_011515252.1:p.Met399Ile
XM_017013296.1:c.1137G>C	XP_016868785.1:p.Met379Ile
XM_017013297.1:c.879G>C	XP_016868786.1:p.Met293Ile
XM_017013298.1:c.879G>C	XP_016868787.1:p.Met293Ile
NM_012472.6:c.1239G>C MANE Select	NP_036604.2:p.Met413Ile
NM_001321961.2:c.1179G>C	NP_001308890.1:p.Met393Ile
NM_001321962.2:c.993G>C	NP_001308891.1:p.Met331Ile
NM_001321963.2:c.879G>C	NP_001308892.1:p.Met293Ile
NM_001321964.2:c.879G>C	NP_001308893.1:p.Met293Ile
NM_001321965.2:c.879G>C	NP_001308894.1:p.Met293Ile
NM_001321966.2:c.819G>C	NP_001308895.1:p.Met273Ile
NR_073525.3:n.1391G>C
NR_135905.2:n.1380G>C
NR_135906.2:n.821G>C
NR_135907.2:n.1067G>C
NR_135908.2:n.761G>C
NR_135909.2:n.1277G>C
NR_135910.2:n.1627G>C
NR_135911.2:n.1747G>C
NR_135912.2:n.2306G>C
NR_135913.2:n.1993G>C