Canonical Allele Identifier: CA413293509

Gene: ALAS2

Linked Data

• MyVariant Identifiers: chrX:g.55042070G>C (hg19) ; chrX:g.55015637G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.55015637G>C , CM000685.2:g.55015637G>C	GRCh38
NC_000023.10:g.55042070G>C , CM000685.1:g.55042070G>C	GRCh37
NC_000023.9:g.55058795G>C	NCBI36
NG_008983.1:g.20428C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000650242.1:c.1109C>G MANE Select	ENSP00000497236.1:p.Ala370Gly
ENST00000330807.9:c.1109C>G	ENSP00000332369.5:p.Ala370Gly
ENST00000335854.8:c.998C>G	ENSP00000337131.4:p.Ala333Gly
ENST00000396198.7:c.1070C>G	ENSP00000379501.3:p.Ala357Gly
ENST00000498636.1:n.400C>G
NM_000032.4:c.1109C>G	NP_000023.2:p.Ala370Gly
NM_001037967.3:c.998C>G	NP_001033056.1:p.Ala333Gly
NM_001037968.3:c.1070C>G	NP_001033057.1:p.Ala357Gly
XM_005261995.2:c.1181C>G	XP_005262052.1:p.Ala394Gly
XM_011530771.1:c.248C>G	XP_011529073.1:p.Ala83Gly
NM_000032.5:c.1109C>G MANE Select	NP_000023.2:p.Ala370Gly
NM_001037967.4:c.998C>G	NP_001033056.1:p.Ala333Gly
NM_001037968.4:c.1070C>G	NP_001033057.1:p.Ala357Gly