Canonical Allele Identifier: CA10428365

Gene: ALAS2

Linked Data

• dbSNP Id: rs776008173
• ExAC: X:55044031 T / A
• gnomAD v2: X-55044031-T-A
• gnomAD v3: X-55017598-T-A
• gnomAD v4: X-55017598-T-A
• COSMIC: COSM3093131 ; COSM3093132 ; COSM3093133
• MyVariant Identifiers: chrX:g.55044031T>A (hg19) ; chrX:g.55017598T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.55017598T>A , CM000685.2:g.55017598T>A	GRCh38
NC_000023.10:g.55044031T>A , CM000685.1:g.55044031T>A	GRCh37
NC_000023.9:g.55060756T>A	NCBI36
NG_008983.1:g.18467A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000650242.1:c.891A>T MANE Select	ENSP00000497236.1:p.Ala297=
ENST00000330807.9:c.891A>T	ENSP00000332369.5:p.Ala297=
ENST00000335854.8:c.780A>T	ENSP00000337131.4:p.Ala260=
ENST00000396198.7:c.852A>T	ENSP00000379501.3:p.Ala284=
ENST00000463868.5:n.608A>T
ENST00000498636.1:n.182A>T
NM_000032.4:c.891A>T	NP_000023.2:p.Ala297=
NM_001037967.3:c.780A>T	NP_001033056.1:p.Ala260=
NM_001037968.3:c.852A>T	NP_001033057.1:p.Ala284=
XM_005261995.2:c.963A>T	XP_005262052.1:p.Ala321=
XM_011530771.1:c.30A>T	XP_011529073.1:p.Ala10=
NM_000032.5:c.891A>T MANE Select	NP_000023.2:p.Ala297=
NM_001037967.4:c.780A>T	NP_001033056.1:p.Ala260=
NM_001037968.4:c.852A>T	NP_001033057.1:p.Ala284=