Canonical Allele Identifier: CA413293326

Gene: ALAS2

Linked Data

• COSMIC: COSM6287144 ; COSM6287145 ; COSM6287146
• MyVariant Identifiers: chrX:g.55042016G>T (hg19) ; chrX:g.55015583G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.55015583G>T , CM000685.2:g.55015583G>T	GRCh38
NC_000023.10:g.55042016G>T , CM000685.1:g.55042016G>T	GRCh37
NC_000023.9:g.55058741G>T	NCBI36
NG_008983.1:g.20482C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000650242.1:c.1163C>A MANE Select	ENSP00000497236.1:p.Thr388Asn
ENST00000330807.9:c.1163C>A	ENSP00000332369.5:p.Thr388Asn
ENST00000335854.8:c.1052C>A	ENSP00000337131.4:p.Thr351Asn
ENST00000396198.7:c.1124C>A	ENSP00000379501.3:p.Thr375Asn
ENST00000498636.1:n.454C>A
NM_000032.4:c.1163C>A	NP_000023.2:p.Thr388Asn
NM_001037967.3:c.1052C>A	NP_001033056.1:p.Thr351Asn
NM_001037968.3:c.1124C>A	NP_001033057.1:p.Thr375Asn
XM_005261995.2:c.1235C>A	XP_005262052.1:p.Thr412Asn
XM_011530771.1:c.302C>A	XP_011529073.1:p.Thr101Asn
NM_000032.5:c.1163C>A MANE Select	NP_000023.2:p.Thr388Asn
NM_001037967.4:c.1052C>A	NP_001033056.1:p.Thr351Asn
NM_001037968.4:c.1124C>A	NP_001033057.1:p.Thr375Asn