Canonical Allele Identifier: CA407462947

Gene: DNAAF3

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55166327A>C , CM000681.2:g.55166327A>C	GRCh38
NC_000019.9:g.55677695A>C , CM000681.1:g.55677695A>C	GRCh37
NC_000019.8:g.60369507A>C	NCBI36
NG_032759.1:g.5396T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001256715.2:c.85+2T>G MANE Select	NP_001243644.1:n.85+2T>G
ENST00000524407.7:c.85+2T>G MANE Select	ENSP00000432046.3:n.85+2T>G
NM_001256714.1:c.226+2T>G	NP_001243643.1:n.226+2T>G
NM_001256715.1:c.85+2T>G	NP_001243644.1:n.85+2T>G
NM_001256716.1:c.-154+2T>G	NP_001243645.1:n.-154+2T>G
NM_001256716.2:c.-154+2T>G	NP_001243645.1:n.-154+2T>G
NM_178837.4:c.226+2T>G	NP_849159.2:n.226+2T>G
ENST00000391720.8:c.226+2T>G	ENSP00000375600.5:n.226+2T>G
ENST00000455045.5:c.-154+2T>G	ENSP00000394343.1:n.-154+2T>G
ENST00000524407.6:c.85+2T>G	ENSP00000432046.2:n.85+2T>G
ENST00000526003.5:c.85+2T>G	ENSP00000473009.1:n.85+2T>G
ENST00000527223.6:c.226+2T>G	ENSP00000436975.2:n.226+2T>G
ENST00000528412.5:c.85+2T>G	ENSP00000433826.2:n.85+2T>G
ENST00000528476.1:n.300+2T>G
ENST00000532817.5:c.-47+2T>G	ENSP00000432838.2:n.-47+2T>G
ENST00000534170.5:c.-47+2T>G	ENSP00000432360.2:n.-47+2T>G
ENST00000534214.1:c.85+2T>G	ENSP00000433247.2:n.85+2T>G
ENST00000586877.1:n.209T>G