Canonical Allele Identifier: CA391810560

Gene: NDUFAF1

Linked Data

• dbSNP Id: rs1257782096
• gnomAD v2: 15-41689050-C-A
• gnomAD v4: 15-41396852-C-A
• MyVariant Identifiers: chr15:g.41689050C>A (hg19) ; chr15:g.41396852C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.41396852C>A , CM000677.2:g.41396852C>A	GRCh38
NC_000015.9:g.41689050C>A , CM000677.1:g.41689050C>A	GRCh37
NC_000015.8:g.39476342C>A	NCBI36
NG_031924.1:g.10609G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260361.9:c.208G>T MANE Select	ENSP00000260361.4:p.Asp70Tyr
ENST00000558719.2:c.208G>T	ENSP00000454083.2:p.Asp70Tyr
ENST00000560978.2:c.208G>T	ENSP00000453944.2:p.Asp70Tyr
ENST00000676533.1:c.208G>T	ENSP00000504040.1:p.Asp70Tyr
ENST00000676906.1:c.-252G>T	ENSP00000503122.1:n.-252G>T
ENST00000677477.1:n.1434G>T
ENST00000678029.1:c.208G>T	ENSP00000503887.1:p.Asp70Tyr
ENST00000678745.1:c.208G>T	ENSP00000503632.1:p.Asp70Tyr
ENST00000679094.1:c.208G>T	ENSP00000504295.1:p.Asp70Tyr
ENST00000679240.1:n.606G>T
ENST00000260361.8:c.208G>T	ENSP00000260361.4:p.Asp70Tyr
ENST00000558719.1:c.208G>T	ENSP00000454083.1:p.Asp70Tyr
ENST00000559127.5:c.208G>T	ENSP00000453027.1:p.Asp70Tyr
ENST00000560978.1:c.208G>T	ENSP00000453944.1:p.Asp70Tyr
NM_016013.3:c.208G>T	NP_057097.2:p.Asp70Tyr
NR_045620.1:n.606G>T
XM_006720555.1:c.208G>T	XP_006720618.1:p.Asp70Tyr
XM_011521658.1:c.208G>T	XP_011519960.1:p.Asp70Tyr
XM_011521659.1:c.208G>T	XP_011519961.1:p.Asp70Tyr
XM_006720555.3:c.208G>T	XP_006720618.1:p.Asp70Tyr
XM_011521659.3:c.208G>T	XP_011519961.1:p.Asp70Tyr
XM_024449945.1:c.208G>T	XP_024305713.1:p.Asp70Tyr
NM_016013.4:c.208G>T MANE Select	NP_057097.2:p.Asp70Tyr
NR_045620.2:n.642G>T