Canonical Allele Identifier: CA372291971

Gene: DNAAF11

Linked Data

• MyVariant Identifiers: chr8:g.133584693C>A (hg19) ; chr8:g.132572445C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.132572445C>A , CM000670.2:g.132572445C>A	GRCh38
NC_000008.10:g.133584693C>A , CM000670.1:g.133584693C>A	GRCh37
NC_000008.9:g.133653875C>A	NCBI36
NG_033068.1:g.108171G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000620350.5:c.1262G>T MANE Select	ENSP00000484634.1:p.Ser421Ile
ENST00000250173.5:c.*126G>T	ENSP00000250173.2:n.*126G>T
ENST00000518642.5:c.*126G>T	ENSP00000428610.1:n.*126G>T
ENST00000519595.5:c.1262G>T	ENSP00000429791.1:p.Ser421Ile
ENST00000522597.1:n.531G>T
ENST00000522789.5:c.482G>T	ENSP00000428015.1:p.Ser161Ile
ENST00000618342.1:c.1262G>T	ENSP00000484802.1:p.Ser421Ile
ENST00000620350.4:c.1262G>T	ENSP00000484634.1:p.Ser421Ile
NM_012472.4:c.1262G>T	NP_036604.2:p.Ser421Ile
NR_073525.1:n.1486G>T
XM_006716538.2:c.1280G>T	XP_006716601.2:p.Ser427Ile
XM_011516950.1:c.1220G>T	XP_011515252.1:p.Ser407Ile
XM_011516952.1:c.1016G>T	XP_011515254.1:p.Ser339Ile
XM_011516953.1:c.902G>T	XP_011515255.1:p.Ser301Ile
XM_011516954.1:c.902G>T	XP_011515256.1:p.Ser301Ile
XR_428377.2:n.1514G>T
NM_001321961.1:c.1202G>T	NP_001308890.1:p.Ser401Ile
NM_001321962.1:c.1016G>T	NP_001308891.1:p.Ser339Ile
NM_001321963.1:c.902G>T	NP_001308892.1:p.Ser301Ile
NM_001321964.1:c.902G>T	NP_001308893.1:p.Ser301Ile
NM_001321965.1:c.902G>T	NP_001308894.1:p.Ser301Ile
NM_001321966.1:c.842G>T	NP_001308895.1:p.Ser281Ile
NM_012472.5:c.1262G>T	NP_036604.2:p.Ser421Ile
NR_073525.2:n.1486G>T
NR_135905.1:n.1475G>T
NR_135906.1:n.916G>T
NR_135907.1:n.1162G>T
NR_135908.1:n.856G>T
NR_135909.1:n.1280G>T
NR_135910.1:n.1587G>T
NR_135911.1:n.1666G>T
NR_135912.1:n.2225G>T
NR_135913.1:n.1912G>T
XM_006716538.3:c.1280G>T	XP_006716601.2:p.Ser427Ile
XM_011516950.2:c.1220G>T	XP_011515252.1:p.Ser407Ile
XM_017013296.1:c.1160G>T	XP_016868785.1:p.Ser387Ile
XM_017013297.1:c.902G>T	XP_016868786.1:p.Ser301Ile
XM_017013298.1:c.902G>T	XP_016868787.1:p.Ser301Ile
NM_012472.6:c.1262G>T MANE Select	NP_036604.2:p.Ser421Ile
NM_001321961.2:c.1202G>T	NP_001308890.1:p.Ser401Ile
NM_001321962.2:c.1016G>T	NP_001308891.1:p.Ser339Ile
NM_001321963.2:c.902G>T	NP_001308892.1:p.Ser301Ile
NM_001321964.2:c.902G>T	NP_001308893.1:p.Ser301Ile
NM_001321965.2:c.902G>T	NP_001308894.1:p.Ser301Ile
NM_001321966.2:c.842G>T	NP_001308895.1:p.Ser281Ile
NR_073525.3:n.1414G>T
NR_135905.2:n.1403G>T
NR_135906.2:n.844G>T
NR_135907.2:n.1090G>T
NR_135908.2:n.784G>T
NR_135909.2:n.1300G>T
NR_135910.2:n.1650G>T
NR_135911.2:n.1770G>T
NR_135912.2:n.2329G>T
NR_135913.2:n.2016G>T