Canonical Allele Identifier: CA413293337

Gene: ALAS2

Linked Data

• MyVariant Identifiers: chrX:g.55042022G>A (hg19) ; chrX:g.55015589G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.55015589G>A , CM000685.2:g.55015589G>A	GRCh38
NC_000023.10:g.55042022G>A , CM000685.1:g.55042022G>A	GRCh37
NC_000023.9:g.55058747G>A	NCBI36
NG_008983.1:g.20476C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650242.1:c.1157C>T MANE Select	ENSP00000497236.1:p.Ser386Phe
ENST00000330807.9:c.1157C>T	ENSP00000332369.5:p.Ser386Phe
ENST00000335854.8:c.1046C>T	ENSP00000337131.4:p.Ser349Phe
ENST00000396198.7:c.1118C>T	ENSP00000379501.3:p.Ser373Phe
ENST00000498636.1:n.448C>T
NM_000032.4:c.1157C>T	NP_000023.2:p.Ser386Phe
NM_001037967.3:c.1046C>T	NP_001033056.1:p.Ser349Phe
NM_001037968.3:c.1118C>T	NP_001033057.1:p.Ser373Phe
XM_005261995.2:c.1229C>T	XP_005262052.1:p.Ser410Phe
XM_011530771.1:c.296C>T	XP_011529073.1:p.Ser99Phe
NM_000032.5:c.1157C>T MANE Select	NP_000023.2:p.Ser386Phe
NM_001037967.4:c.1046C>T	NP_001033056.1:p.Ser349Phe
NM_001037968.4:c.1118C>T	NP_001033057.1:p.Ser373Phe