Canonical Allele Identifier: CA372296159

Gene: DNAAF11

Linked Data

• MyVariant Identifiers: chr8:g.133673756C>G (hg19) ; chr8:g.132661510C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.132661510C>G , CM000670.2:g.132661510C>G	GRCh38
NC_000008.10:g.133673756C>G , CM000670.1:g.133673756C>G	GRCh37
NC_000008.9:g.133742938C>G	NCBI36
NG_033068.1:g.19108G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000620350.5:c.128G>C MANE Select	ENSP00000484634.1:p.Cys43Ser
ENST00000250173.5:c.128G>C	ENSP00000250173.2:p.Cys43Ser
ENST00000518101.1:n.215G>C
ENST00000518642.5:c.128G>C	ENSP00000428610.1:p.Cys43Ser
ENST00000519595.5:c.128G>C	ENSP00000429791.1:p.Cys43Ser
ENST00000520446.5:n.227G>C
ENST00000521430.5:n.370G>C
ENST00000522584.5:c.128G>C	ENSP00000429811.1:p.Cys43Ser
ENST00000523503.1:n.242+13808G>C
ENST00000618342.1:c.128G>C	ENSP00000484802.1:p.Cys43Ser
ENST00000620350.4:c.128G>C	ENSP00000484634.1:p.Cys43Ser
NM_012472.4:c.128G>C	NP_036604.2:p.Cys43Ser
NR_073525.1:n.252G>C
XM_006716538.2:c.146G>C	XP_006716601.2:p.Cys49Ser
XM_011516950.1:c.146G>C	XP_011515252.1:p.Cys49Ser
XM_011516951.1:c.146G>C	XP_011515253.1:p.Cys49Ser
XM_011516952.1:c.10+13974G>C	XP_011515254.1:n.10+13974G>C
XM_011516953.1:c.-233G>C	XP_011515255.1:n.-233G>C
XR_428377.2:n.271G>C
NM_001321961.1:c.128G>C	NP_001308890.1:p.Cys43Ser
NM_001321962.1:c.10+13974G>C	NP_001308891.1:n.10+13974G>C
NM_001321963.1:c.-233G>C	NP_001308892.1:n.-233G>C
NM_001321964.1:c.-233G>C	NP_001308893.1:n.-233G>C
NM_001321965.1:c.-546G>C	NP_001308894.1:n.-546G>C
NM_001321966.1:c.-233G>C	NP_001308895.1:n.-233G>C
NM_012472.5:c.128G>C	NP_036604.2:p.Cys43Ser
NR_073525.2:n.252G>C
NR_135905.1:n.252G>C
NR_135906.1:n.134+13974G>C
NR_135907.1:n.252G>C
NR_135908.1:n.134+13974G>C
NR_135909.1:n.370G>C
NR_135910.1:n.677G>C
NR_135911.1:n.884+13048G>C
NR_135912.1:n.1002G>C
NR_135913.1:n.1002G>C
XM_006716538.3:c.146G>C	XP_006716601.2:p.Cys49Ser
XM_011516950.2:c.146G>C	XP_011515252.1:p.Cys49Ser
XM_017013297.1:c.-233G>C	XP_016868786.1:n.-233G>C
XM_017013298.1:c.-337G>C	XP_016868787.1:n.-337G>C
NM_012472.6:c.128G>C MANE Select	NP_036604.2:p.Cys43Ser
NM_001321961.2:c.128G>C	NP_001308890.1:p.Cys43Ser
NM_001321962.2:c.10+13974G>C	NP_001308891.1:n.10+13974G>C
NM_001321963.2:c.-233G>C	NP_001308892.1:n.-233G>C
NM_001321964.2:c.-233G>C	NP_001308893.1:n.-233G>C
NM_001321965.2:c.-546G>C	NP_001308894.1:n.-546G>C
NM_001321966.2:c.-233G>C	NP_001308895.1:n.-233G>C
NR_073525.3:n.180G>C
NR_135905.2:n.180G>C
NR_135906.2:n.62+13974G>C
NR_135907.2:n.180G>C
NR_135908.2:n.62+13974G>C
NR_135909.2:n.390G>C
NR_135910.2:n.740G>C
NR_135911.2:n.988+13048G>C
NR_135912.2:n.1106G>C
NR_135913.2:n.1106G>C