Canonical Allele Identifier: CA8998532
Community Standard Title: NM_148923.4(CYB5A):c.25G>T (p.Val9Leu)
Gene: CYB5A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.74291851C>A , CM000680.2:g.74291851C>A GRCh38
NC_000018.9:g.71959086C>A , CM000680.1:g.71959086C>A GRCh37
NC_000018.8:g.70110066C>A NCBI36
NG_023211.1:g.5136G>T

Transcript Alleles

HGVS Amino-acid Change
NM_148923.4:c.25G>T MANE Select NP_683725.1:p.Val9Leu
ENST00000340533.9:c.25G>T MANE Select ENSP00000341625.4:p.Val9Leu
NM_001190807.2:c.25G>T NP_001177736.1:p.Val9Leu
NM_001190807.3:c.25G>T NP_001177736.1:p.Val9Leu
NM_001914.3:c.25G>T NP_001905.1:p.Val9Leu
NM_001914.4:c.25G>T NP_001905.1:p.Val9Leu
NM_148923.3:c.25G>T NP_683725.1:p.Val9Leu
ENST00000340533.8:c.25G>T ENSP00000341625.4:p.Val9Leu
ENST00000397914.4:c.25G>T ENSP00000381011.4:p.Val9Leu
ENST00000494131.6:c.25G>T ENSP00000436461.2:p.Val9Leu
ENST00000583418.1:n.107G>T
XM_011525835.1:c.25G>T XP_011524137.1:p.Val9Leu
XM_011525835.2:c.25G>T XP_011524137.1:p.Val9Leu