Canonical Allele Identifier: CA372291856

Gene: DNAAF11

Linked Data

• MyVariant Identifiers: chr8:g.133584643T>G (hg19) ; chr8:g.132572395T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.132572395T>G , CM000670.2:g.132572395T>G	GRCh38
NC_000008.10:g.133584643T>G , CM000670.1:g.133584643T>G	GRCh37
NC_000008.9:g.133653825T>G	NCBI36
NG_033068.1:g.108221A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000620350.5:c.1312A>C MANE Select	ENSP00000484634.1:p.Thr438Pro
ENST00000250173.5:c.*176A>C	ENSP00000250173.2:n.*176A>C
ENST00000518642.5:c.*176A>C	ENSP00000428610.1:n.*176A>C
ENST00000519595.5:c.1312A>C	ENSP00000429791.1:p.Thr438Pro
ENST00000522789.5:c.532A>C	ENSP00000428015.1:p.Thr178Pro
ENST00000618342.1:c.1312A>C	ENSP00000484802.1:p.Thr438Pro
ENST00000620350.4:c.1312A>C	ENSP00000484634.1:p.Thr438Pro
NM_012472.4:c.1312A>C	NP_036604.2:p.Thr438Pro
NR_073525.1:n.1536A>C
XM_006716538.2:c.1330A>C	XP_006716601.2:p.Thr444Pro
XM_011516950.1:c.1270A>C	XP_011515252.1:p.Thr424Pro
XM_011516952.1:c.1066A>C	XP_011515254.1:p.Thr356Pro
XM_011516953.1:c.952A>C	XP_011515255.1:p.Thr318Pro
XM_011516954.1:c.952A>C	XP_011515256.1:p.Thr318Pro
XR_428377.2:n.1564A>C
NM_001321961.1:c.1252A>C	NP_001308890.1:p.Thr418Pro
NM_001321962.1:c.1066A>C	NP_001308891.1:p.Thr356Pro
NM_001321963.1:c.952A>C	NP_001308892.1:p.Thr318Pro
NM_001321964.1:c.952A>C	NP_001308893.1:p.Thr318Pro
NM_001321965.1:c.952A>C	NP_001308894.1:p.Thr318Pro
NM_001321966.1:c.892A>C	NP_001308895.1:p.Thr298Pro
NM_012472.5:c.1312A>C	NP_036604.2:p.Thr438Pro
NR_073525.2:n.1536A>C
NR_135905.1:n.1525A>C
NR_135906.1:n.966A>C
NR_135907.1:n.1212A>C
NR_135908.1:n.906A>C
NR_135909.1:n.1330A>C
NR_135910.1:n.1637A>C
NR_135911.1:n.1716A>C
NR_135912.1:n.2275A>C
NR_135913.1:n.1962A>C
XM_006716538.3:c.1330A>C	XP_006716601.2:p.Thr444Pro
XM_011516950.2:c.1270A>C	XP_011515252.1:p.Thr424Pro
XM_017013296.1:c.1210A>C	XP_016868785.1:p.Thr404Pro
XM_017013297.1:c.952A>C	XP_016868786.1:p.Thr318Pro
XM_017013298.1:c.952A>C	XP_016868787.1:p.Thr318Pro
NM_012472.6:c.1312A>C MANE Select	NP_036604.2:p.Thr438Pro
NM_001321961.2:c.1252A>C	NP_001308890.1:p.Thr418Pro
NM_001321962.2:c.1066A>C	NP_001308891.1:p.Thr356Pro
NM_001321963.2:c.952A>C	NP_001308892.1:p.Thr318Pro
NM_001321964.2:c.952A>C	NP_001308893.1:p.Thr318Pro
NM_001321965.2:c.952A>C	NP_001308894.1:p.Thr318Pro
NM_001321966.2:c.892A>C	NP_001308895.1:p.Thr298Pro
NR_073525.3:n.1464A>C
NR_135905.2:n.1453A>C
NR_135906.2:n.894A>C
NR_135907.2:n.1140A>C
NR_135908.2:n.834A>C
NR_135909.2:n.1350A>C
NR_135910.2:n.1700A>C
NR_135911.2:n.1820A>C
NR_135912.2:n.2379A>C
NR_135913.2:n.2066A>C