Canonical Allele Identifier: CA516988595
Gene: EFNB1 HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.68049736C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.68829893C>T , CM000685.2:g.68829893C>T GRCh38
NC_000023.10:g.68049736C>T , CM000685.1:g.68049736C>T GRCh37
NC_000023.9:g.67966461C>T NCBI36
NG_008887.1:g.5897C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000204961.5:c.117C>T MANE Select ENSP00000204961.4:p.Ser39=
ENST00000204961.4:c.117C>T ENSP00000204961.4:p.Ser39=
NM_004429.4:c.117C>T NP_004420.1:p.Ser39=
NM_004429.5:c.117C>T MANE Select NP_004420.1:p.Ser39=