Canonical Allele Identifier: CA516988559
Gene: EFNB1 HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.68049691C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.68829848C>G , CM000685.2:g.68829848C>G GRCh38
NC_000023.10:g.68049691C>G , CM000685.1:g.68049691C>G GRCh37
NC_000023.9:g.67966416C>G NCBI36
NG_008887.1:g.5852C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000204961.5:c.72C>G MANE Select ENSP00000204961.4:p.Leu24=
ENST00000204961.4:c.72C>G ENSP00000204961.4:p.Leu24=
NM_004429.4:c.72C>G NP_004420.1:p.Leu24=
NM_004429.5:c.72C>G MANE Select NP_004420.1:p.Leu24=