Canonical Allele Identifier: CA342648827

Gene: EFNA1

Linked Data

• MyVariant Identifiers: chr1:g.155106212G>A (hg19) ; chr1:g.155133736G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.155133736G>A , CM000663.2:g.155133736G>A	GRCh38
NC_000001.10:g.155106212G>A , CM000663.1:g.155106212G>A	GRCh37
NC_000001.9:g.153372836G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368407.8:c.461G>A MANE Select	ENSP00000357392.3:p.Ser154Asn
ENST00000368406.2:c.395G>A	ENSP00000357391.2:p.Ser132Asn
ENST00000368407.7:c.461G>A	ENSP00000357392.3:p.Ser154Asn
ENST00000469878.5:n.712G>A
ENST00000474413.5:n.686G>A
ENST00000497282.1:n.504G>A
NM_004428.2:c.461G>A	NP_004419.2:p.Ser154Asn
NM_182685.1:c.395G>A	NP_872626.1:p.Ser132Asn
XM_005244940.3:c.272G>A	XP_005244997.1:p.Ser91Asn
NM_004428.3:c.461G>A MANE Select	NP_004419.2:p.Ser154Asn
NM_182685.2:c.395G>A	NP_872626.1:p.Ser132Asn