Canonical Allele Identifier: CA413437194
Gene: EFNB1 HGNC NCBI

Linked Data

gnomAD v4: X-68829885-T-A
MyVariant Identifiers: chrX:g.68049728T>A (hg19) chrX:g.68829885T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.68829885T>A , CM000685.2:g.68829885T>A GRCh38
NC_000023.10:g.68049728T>A , CM000685.1:g.68049728T>A GRCh37
NC_000023.9:g.67966453T>A NCBI36
NG_008887.1:g.5889T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000204961.5:c.109T>A MANE Select ENSP00000204961.4:p.Trp37Arg
ENST00000204961.4:c.109T>A ENSP00000204961.4:p.Trp37Arg
NM_004429.4:c.109T>A NP_004420.1:p.Trp37Arg
NM_004429.5:c.109T>A MANE Select NP_004420.1:p.Trp37Arg
Search 100 bp 5'
Search 100 bp 3'