Canonical Allele Identifier: CA516988580
Gene: EFNB1 HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.68049715G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.68829872G>C , CM000685.2:g.68829872G>C GRCh38
NC_000023.10:g.68049715G>C , CM000685.1:g.68049715G>C GRCh37
NC_000023.9:g.67966440G>C NCBI36
NG_008887.1:g.5876G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000204961.5:c.96G>C MANE Select ENSP00000204961.4:p.Leu32=
ENST00000204961.4:c.96G>C ENSP00000204961.4:p.Leu32=
NM_004429.4:c.96G>C NP_004420.1:p.Leu32=
NM_004429.5:c.96G>C MANE Select NP_004420.1:p.Leu32=