Canonical Allele Identifier: CA980332429
Community Standard Title: NM_000101.4(CYBA):c.370-19A>C
Gene: CYBA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.88643590T>G , CM000678.2:g.88643590T>G GRCh38
NC_000016.9:g.88709998T>G , CM000678.1:g.88709998T>G GRCh37
NC_000016.8:g.87237499T>G NCBI36
NG_007291.1:g.12460A>C , LRG_52:g.12460A>C

Transcript Alleles

HGVS Amino-acid Change
NM_000101.4:c.370-19A>C MANE Select NP_000092.2:n.370-19A>C
ENST00000261623.8:c.370-19A>C MANE Select ENSP00000261623.3:n.370-19A>C
NM_000101.3:c.370-19A>C NP_000092.2:n.370-19A>C
ENST00000261623.7:c.370-19A>C ENSP00000261623.3:n.370-19A>C
ENST00000565588.5:c.154-9A>C
ENST00000565588.6:c.370-9A>C ENSP00000455537.2:n.370-9A>C
ENST00000566229.1:c.359-19A>C ENSP00000457060.1:n.359-19A>C
ENST00000566534.5:n.949-19A>C
ENST00000696156.1:c.286-19A>C ENSP00000512446.1:n.286-19A>C
ENST00000696157.1:c.*568A>C ENSP00000512447.1:n.*568A>C
ENST00000696158.1:c.*605A>C ENSP00000512448.1:n.*605A>C
ENST00000696159.1:c.*274A>C ENSP00000512449.1:n.*274A>C
ENST00000696160.1:c.397-19A>C ENSP00000512450.1:n.397-19A>C
ENST00000696161.1:c.500-19A>C ENSP00000512451.1:n.500-19A>C
ENST00000696162.1:c.*1070A>C ENSP00000512452.1:n.*1070A>C
ENST00000696163.1:c.319-19A>C ENSP00000512453.1:n.319-19A>C
XM_011522905.3:c.*1576A>C XP_011521207.1:n.*1576A>C