Canonical Allele Identifier: CA342649187

Gene: EFNA1

Linked Data

• MyVariant Identifiers: chr1:g.155106253G>A (hg19) ; chr1:g.155133777G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155133777G>A , CM000663.2:g.155133777G>A	GRCh38
NC_000001.10:g.155106253G>A , CM000663.1:g.155106253G>A	GRCh37
NC_000001.9:g.153372877G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368407.8:c.502G>A MANE Select	ENSP00000357392.3:p.Ala168Thr
ENST00000368406.2:c.436G>A	ENSP00000357391.2:p.Ala146Thr
ENST00000368407.7:c.502G>A	ENSP00000357392.3:p.Ala168Thr
ENST00000469878.5:n.753G>A
ENST00000474413.5:n.727G>A
ENST00000497282.1:n.545G>A
NM_004428.2:c.502G>A	NP_004419.2:p.Ala168Thr
NM_182685.1:c.436G>A	NP_872626.1:p.Ala146Thr
XM_005244940.3:c.313G>A	XP_005244997.1:p.Ala105Thr
NM_004428.3:c.502G>A MANE Select	NP_004419.2:p.Ala168Thr
NM_182685.2:c.436G>A	NP_872626.1:p.Ala146Thr