Canonical Allele Identifier: CA10428339

Gene: ALAS2

Linked Data

• ClinVar Variation Id: 383289
• ClinVar RCV Id: RCV001703798 ; RCV001821178
• dbSNP Id: rs371716491
• ExAC: X:55042076 C / T
• gnomAD v2: X-55042076-C-T
• gnomAD v3: X-55015643-C-T
• gnomAD v4: X-55015643-C-T
• COSMIC: COSM1182448 ; COSM1182449 ; COSM1182450
• MyVariant Identifiers: chrX:g.55042076C>T (hg19) ; chrX:g.55015643C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.55015643C>T , CM000685.2:g.55015643C>T	GRCh38
NC_000023.10:g.55042076C>T , CM000685.1:g.55042076C>T	GRCh37
NC_000023.9:g.55058801C>T	NCBI36
NG_008983.1:g.20422G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650242.1:c.1103G>A MANE Select	ENSP00000497236.1:p.Arg368Gln
ENST00000330807.9:c.1103G>A	ENSP00000332369.5:p.Arg368Gln
ENST00000335854.8:c.992G>A	ENSP00000337131.4:p.Arg331Gln
ENST00000396198.7:c.1064G>A	ENSP00000379501.3:p.Arg355Gln
ENST00000498636.1:n.394G>A
NM_000032.4:c.1103G>A	NP_000023.2:p.Arg368Gln
NM_001037967.3:c.992G>A	NP_001033056.1:p.Arg331Gln
NM_001037968.3:c.1064G>A	NP_001033057.1:p.Arg355Gln
XM_005261995.2:c.1175G>A	XP_005262052.1:p.Arg392Gln
XM_011530771.1:c.242G>A	XP_011529073.1:p.Arg81Gln
NM_000032.5:c.1103G>A MANE Select	NP_000023.2:p.Arg368Gln
NM_001037967.4:c.992G>A	NP_001033056.1:p.Arg331Gln
NM_001037968.4:c.1064G>A	NP_001033057.1:p.Arg355Gln