Canonical Allele Identifier: CA403061639

Gene: CYB5A

Linked Data

• ClinVar Variation Id: 524200
• ClinVar RCV Id: RCV000627675
• dbSNP Id: rs1555691399
• MyVariant Identifiers: chr18:g.71959030C>T (hg19) ; chr18:g.74291795C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.74291795C>T , CM000680.2:g.74291795C>T	GRCh38
NC_000018.9:g.71959030C>T , CM000680.1:g.71959030C>T	GRCh37
NC_000018.8:g.70110010C>T	NCBI36
NG_023211.1:g.5192G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000340533.9:c.81G>A MANE Select	ENSP00000341625.4:p.Trp27Ter
ENST00000340533.8:c.81G>A	ENSP00000341625.4:p.Trp27Ter
ENST00000397914.4:c.81G>A	ENSP00000381011.4:p.Trp27Ter
ENST00000494131.6:c.81G>A	ENSP00000436461.2:p.Trp27Ter
ENST00000583418.1:n.163G>A
NM_001190807.2:c.81G>A	NP_001177736.1:p.Trp27Ter
NM_001914.3:c.81G>A	NP_001905.1:p.Trp27Ter
NM_148923.3:c.81G>A	NP_683725.1:p.Trp27Ter
XM_011525835.1:c.81G>A	XP_011524137.1:p.Trp27Ter
XM_011525835.2:c.81G>A	XP_011524137.1:p.Trp27Ter
NM_148923.4:c.81G>A MANE Select	NP_683725.1:p.Trp27Ter
NM_001190807.3:c.81G>A	NP_001177736.1:p.Trp27Ter
NM_001914.4:c.81G>A	NP_001905.1:p.Trp27Ter