Canonical Allele Identifier: CA413437230
Gene: EFNB1 HGNC NCBI

Linked Data

gnomAD v4: X-68829900-C-A
MyVariant Identifiers: chrX:g.68049743C>A (hg19) chrX:g.68829900C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.68829900C>A , CM000685.2:g.68829900C>A GRCh38
NC_000023.10:g.68049743C>A , CM000685.1:g.68049743C>A GRCh37
NC_000023.9:g.67966468C>A NCBI36
NG_008887.1:g.5904C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000204961.5:c.124C>A MANE Select ENSP00000204961.4:p.Pro42Thr
ENST00000204961.4:c.124C>A ENSP00000204961.4:p.Pro42Thr
NM_004429.4:c.124C>A NP_004420.1:p.Pro42Thr
NM_004429.5:c.124C>A MANE Select NP_004420.1:p.Pro42Thr
Search 100 bp 5'
Search 100 bp 3'