Canonical Allele Identifier: CA413437229
Gene: EFNB1 HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.68049743C>G (hg19) chrX:g.68829900C>G (hg38)
JSON-LD

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000204961.5:c.124C>G MANE Select ENSP00000204961.4:p.Pro42Ala
ENST00000204961.4:c.124C>G ENSP00000204961.4:p.Pro42Ala
NM_004429.4:c.124C>G NP_004420.1:p.Pro42Ala
NM_004429.5:c.124C>G MANE Select NP_004420.1:p.Pro42Ala
Search 100 bp 5'
Search 100 bp 3'