Canonical Allele Identifier: CA372291969

Gene: DNAAF11

Linked Data

• dbSNP Id: rs376047404
• gnomAD v3: 8-132572444-G-C
• gnomAD v4: 8-132572444-G-C
• MyVariant Identifiers: chr8:g.133584692G>C (hg19) ; chr8:g.132572444G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.132572444G>C , CM000670.2:g.132572444G>C	GRCh38
NC_000008.10:g.133584692G>C , CM000670.1:g.133584692G>C	GRCh37
NC_000008.9:g.133653874G>C	NCBI36
NG_033068.1:g.108172C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000620350.5:c.1263C>G MANE Select	ENSP00000484634.1:p.Ser421Arg
ENST00000250173.5:c.*127C>G	ENSP00000250173.2:n.*127C>G
ENST00000518642.5:c.*127C>G	ENSP00000428610.1:n.*127C>G
ENST00000519595.5:c.1263C>G	ENSP00000429791.1:p.Ser421Arg
ENST00000522597.1:n.532C>G
ENST00000522789.5:c.483C>G	ENSP00000428015.1:p.Ser161Arg
ENST00000618342.1:c.1263C>G	ENSP00000484802.1:p.Ser421Arg
ENST00000620350.4:c.1263C>G	ENSP00000484634.1:p.Ser421Arg
NM_012472.4:c.1263C>G	NP_036604.2:p.Ser421Arg
NR_073525.1:n.1487C>G
XM_006716538.2:c.1281C>G	XP_006716601.2:p.Ser427Arg
XM_011516950.1:c.1221C>G	XP_011515252.1:p.Ser407Arg
XM_011516952.1:c.1017C>G	XP_011515254.1:p.Ser339Arg
XM_011516953.1:c.903C>G	XP_011515255.1:p.Ser301Arg
XM_011516954.1:c.903C>G	XP_011515256.1:p.Ser301Arg
XR_428377.2:n.1515C>G
NM_001321961.1:c.1203C>G	NP_001308890.1:p.Ser401Arg
NM_001321962.1:c.1017C>G	NP_001308891.1:p.Ser339Arg
NM_001321963.1:c.903C>G	NP_001308892.1:p.Ser301Arg
NM_001321964.1:c.903C>G	NP_001308893.1:p.Ser301Arg
NM_001321965.1:c.903C>G	NP_001308894.1:p.Ser301Arg
NM_001321966.1:c.843C>G	NP_001308895.1:p.Ser281Arg
NM_012472.5:c.1263C>G	NP_036604.2:p.Ser421Arg
NR_073525.2:n.1487C>G
NR_135905.1:n.1476C>G
NR_135906.1:n.917C>G
NR_135907.1:n.1163C>G
NR_135908.1:n.857C>G
NR_135909.1:n.1281C>G
NR_135910.1:n.1588C>G
NR_135911.1:n.1667C>G
NR_135912.1:n.2226C>G
NR_135913.1:n.1913C>G
XM_006716538.3:c.1281C>G	XP_006716601.2:p.Ser427Arg
XM_011516950.2:c.1221C>G	XP_011515252.1:p.Ser407Arg
XM_017013296.1:c.1161C>G	XP_016868785.1:p.Ser387Arg
XM_017013297.1:c.903C>G	XP_016868786.1:p.Ser301Arg
XM_017013298.1:c.903C>G	XP_016868787.1:p.Ser301Arg
NM_012472.6:c.1263C>G MANE Select	NP_036604.2:p.Ser421Arg
NM_001321961.2:c.1203C>G	NP_001308890.1:p.Ser401Arg
NM_001321962.2:c.1017C>G	NP_001308891.1:p.Ser339Arg
NM_001321963.2:c.903C>G	NP_001308892.1:p.Ser301Arg
NM_001321964.2:c.903C>G	NP_001308893.1:p.Ser301Arg
NM_001321965.2:c.903C>G	NP_001308894.1:p.Ser301Arg
NM_001321966.2:c.843C>G	NP_001308895.1:p.Ser281Arg
NR_073525.3:n.1415C>G
NR_135905.2:n.1404C>G
NR_135906.2:n.845C>G
NR_135907.2:n.1091C>G
NR_135908.2:n.785C>G
NR_135909.2:n.1301C>G
NR_135910.2:n.1651C>G
NR_135911.2:n.1771C>G
NR_135912.2:n.2330C>G
NR_135913.2:n.2017C>G