Canonical Allele Identifier: CA372291979

Gene: DNAAF11

Linked Data

• gnomAD v4: 8-132572449-G-A
• MyVariant Identifiers: chr8:g.133584697G>A (hg19) ; chr8:g.132572449G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.132572449G>A , CM000670.2:g.132572449G>A	GRCh38
NC_000008.10:g.133584697G>A , CM000670.1:g.133584697G>A	GRCh37
NC_000008.9:g.133653879G>A	NCBI36
NG_033068.1:g.108167C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000620350.5:c.1258C>T MANE Select	ENSP00000484634.1:p.Pro420Ser
ENST00000250173.5:c.*122C>T	ENSP00000250173.2:n.*122C>T
ENST00000518642.5:c.*122C>T	ENSP00000428610.1:n.*122C>T
ENST00000519595.5:c.1258C>T	ENSP00000429791.1:p.Pro420Ser
ENST00000522597.1:n.527C>T
ENST00000522789.5:c.478C>T	ENSP00000428015.1:p.Pro160Ser
ENST00000618342.1:c.1258C>T	ENSP00000484802.1:p.Pro420Ser
ENST00000620350.4:c.1258C>T	ENSP00000484634.1:p.Pro420Ser
NM_012472.4:c.1258C>T	NP_036604.2:p.Pro420Ser
NR_073525.1:n.1482C>T
XM_006716538.2:c.1276C>T	XP_006716601.2:p.Pro426Ser
XM_011516950.1:c.1216C>T	XP_011515252.1:p.Pro406Ser
XM_011516952.1:c.1012C>T	XP_011515254.1:p.Pro338Ser
XM_011516953.1:c.898C>T	XP_011515255.1:p.Pro300Ser
XM_011516954.1:c.898C>T	XP_011515256.1:p.Pro300Ser
XR_428377.2:n.1510C>T
NM_001321961.1:c.1198C>T	NP_001308890.1:p.Pro400Ser
NM_001321962.1:c.1012C>T	NP_001308891.1:p.Pro338Ser
NM_001321963.1:c.898C>T	NP_001308892.1:p.Pro300Ser
NM_001321964.1:c.898C>T	NP_001308893.1:p.Pro300Ser
NM_001321965.1:c.898C>T	NP_001308894.1:p.Pro300Ser
NM_001321966.1:c.838C>T	NP_001308895.1:p.Pro280Ser
NM_012472.5:c.1258C>T	NP_036604.2:p.Pro420Ser
NR_073525.2:n.1482C>T
NR_135905.1:n.1471C>T
NR_135906.1:n.912C>T
NR_135907.1:n.1158C>T
NR_135908.1:n.852C>T
NR_135909.1:n.1276C>T
NR_135910.1:n.1583C>T
NR_135911.1:n.1662C>T
NR_135912.1:n.2221C>T
NR_135913.1:n.1908C>T
XM_006716538.3:c.1276C>T	XP_006716601.2:p.Pro426Ser
XM_011516950.2:c.1216C>T	XP_011515252.1:p.Pro406Ser
XM_017013296.1:c.1156C>T	XP_016868785.1:p.Pro386Ser
XM_017013297.1:c.898C>T	XP_016868786.1:p.Pro300Ser
XM_017013298.1:c.898C>T	XP_016868787.1:p.Pro300Ser
NM_012472.6:c.1258C>T MANE Select	NP_036604.2:p.Pro420Ser
NM_001321961.2:c.1198C>T	NP_001308890.1:p.Pro400Ser
NM_001321962.2:c.1012C>T	NP_001308891.1:p.Pro338Ser
NM_001321963.2:c.898C>T	NP_001308892.1:p.Pro300Ser
NM_001321964.2:c.898C>T	NP_001308893.1:p.Pro300Ser
NM_001321965.2:c.898C>T	NP_001308894.1:p.Pro300Ser
NM_001321966.2:c.838C>T	NP_001308895.1:p.Pro280Ser
NR_073525.3:n.1410C>T
NR_135905.2:n.1399C>T
NR_135906.2:n.840C>T
NR_135907.2:n.1086C>T
NR_135908.2:n.780C>T
NR_135909.2:n.1296C>T
NR_135910.2:n.1646C>T
NR_135911.2:n.1766C>T
NR_135912.2:n.2325C>T
NR_135913.2:n.2012C>T