Canonical Allele Identifier: CA413437992
Gene: EFNB1 HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.68059554G>T (hg19) chrX:g.68839711G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.68839711G>T , CM000685.2:g.68839711G>T GRCh38
NC_000023.10:g.68059554G>T , CM000685.1:g.68059554G>T GRCh37
NC_000023.9:g.67976279G>T NCBI36
NG_008887.1:g.15715G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000204961.5:c.454G>T MANE Select ENSP00000204961.4:p.Val152Leu
ENST00000204961.4:c.454G>T ENSP00000204961.4:p.Val152Leu
NM_004429.4:c.454G>T NP_004420.1:p.Val152Leu
NM_004429.5:c.454G>T MANE Select NP_004420.1:p.Val152Leu
Search 100 bp 5'
Search 100 bp 3'