Canonical Allele Identifier: CA9668334

Gene: DNAAF3

Linked Data

• ClinVar Variation Id: 416072
• ClinVar RCV Id: RCV000463492 ; RCV003480649
• dbSNP Id: rs200365972
• ExAC: 19:55678015 A / G
• gnomAD v2: 19-55678015-A-G
• gnomAD v3: 19-55166647-A-G
• gnomAD v4: 19-55166647-A-G
• MyVariant Identifiers: chr19:g.55678015A>G (hg19) ; chr19:g.55166647A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55166647A>G , CM000681.2:g.55166647A>G	GRCh38
NC_000019.9:g.55678015A>G , CM000681.1:g.55678015A>G	GRCh37
NC_000019.8:g.60369827A>G	NCBI36
NG_032759.1:g.5076T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000391720.8:c.2T>C	ENSP00000375600.5:p.Met1Thr
ENST00000455045.5:c.-378T>C	ENSP00000394343.1:n.-378T>C
ENST00000527223.6:c.2T>C	ENSP00000436975.2:p.Met1Thr
ENST00000528476.1:n.76T>C
NM_001256714.1:c.2T>C	NP_001243643.1:p.Met1Thr
NM_001256715.1:c.-129T>C	NP_001243644.1:n.-129T>C
NM_001256716.1:c.-378T>C	NP_001243645.1:n.-378T>C
NM_178837.4:c.2T>C	NP_849159.2:p.Met1Thr