Canonical Allele Identifier: CA397056595

Gene: CYBA

Linked Data

• MyVariant Identifiers: chr16:g.88709823C>G (hg19) ; chr16:g.88643415C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.88643415C>G , CM000678.2:g.88643415C>G	GRCh38
NC_000016.9:g.88709823C>G , CM000678.1:g.88709823C>G	GRCh37
NC_000016.8:g.87237324C>G	NCBI36
NG_007291.1:g.12635G>C , LRG_52:g.12635G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696156.1:c.442G>C	ENSP00000512446.1:p.Ala148Pro
ENST00000696157.1:c.*743G>C	ENSP00000512447.1:n.*743G>C
ENST00000696158.1:c.*780G>C	ENSP00000512448.1:n.*780G>C
ENST00000696159.1:c.*449G>C	ENSP00000512449.1:n.*449G>C
ENST00000696160.1:c.553G>C	ENSP00000512450.1:p.Ala185Pro
ENST00000696161.1:c.656G>C	ENSP00000512451.1:p.Gly219Ala
ENST00000696162.1:c.*1245G>C	ENSP00000512452.1:n.*1245G>C
ENST00000696163.1:c.475G>C	ENSP00000512453.1:p.Ala159Pro
ENST00000261623.8:c.526G>C MANE Select	ENSP00000261623.3:p.Ala176Pro
ENST00000261623.7:c.526G>C	ENSP00000261623.3:p.Ala176Pro
NM_000101.3:c.526G>C	NP_000092.2:p.Ala176Pro
NM_000101.4:c.526G>C MANE Select	NP_000092.2:p.Ala176Pro