Canonical Allele Identifier: CA516988600
Gene: EFNB1 HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.68049745C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.68829902C>A , CM000685.2:g.68829902C>A GRCh38
NC_000023.10:g.68049745C>A , CM000685.1:g.68049745C>A GRCh37
NC_000023.9:g.67966470C>A NCBI36
NG_008887.1:g.5906C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000204961.5:c.126C>A MANE Select ENSP00000204961.4:p.Pro42=
ENST00000204961.4:c.126C>A ENSP00000204961.4:p.Pro42=
NM_004429.4:c.126C>A NP_004420.1:p.Pro42=
NM_004429.5:c.126C>A MANE Select NP_004420.1:p.Pro42=