Canonical Allele Identifier: CA8998442

Gene: CYB5A

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.74260927T>C , CM000680.2:g.74260927T>C	GRCh38
NC_000018.9:g.71928162T>C , CM000680.1:g.71928162T>C	GRCh37
NC_000018.8:g.70079142T>C	NCBI36
NG_023211.1:g.36060A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_148923.4:c.276A>G MANE Select	NP_683725.1:p.Leu92=
ENST00000340533.9:c.276A>G MANE Select	ENSP00000341625.4:p.Leu92=
NM_001190807.2:c.258+2422A>G	NP_001177736.1:n.258+2422A>G
NM_001190807.3:c.258+2422A>G	NP_001177736.1:n.258+2422A>G
NM_001914.3:c.276A>G	NP_001905.1:p.Leu92=
NM_001914.4:c.276A>G	NP_001905.1:p.Leu92=
NM_148923.3:c.276A>G	NP_683725.1:p.Leu92=
ENST00000299438.13:c.54A>G	ENSP00000299438.9:p.Leu18=
ENST00000340533.8:c.276A>G	ENSP00000341625.4:p.Leu92=
ENST00000397914.4:c.258+2422A>G	ENSP00000381011.4:n.258+2422A>G
ENST00000494131.6:c.276A>G	ENSP00000436461.2:p.Leu92=
ENST00000579064.1:n.146A>G
ENST00000580678.5:n.755A>G
ENST00000583418.1:n.358A>G
XM_011525835.1:c.276A>G	XP_011524137.1:p.Leu92=
XM_011525835.2:c.276A>G	XP_011524137.1:p.Leu92=