Canonical Allele Identifier: CA2838261472

Gene: ALAS2

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.55017673A>G , CM000685.2:g.55017673A>G	GRCh38
NC_000023.10:g.55044106A>G , CM000685.1:g.55044106A>G	GRCh37
NC_000023.9:g.55060831A>G	NCBI36
NG_008983.1:g.18392T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477869.6:c.497-8T>C	ENSP00000496725.1:n.497-8T>C
ENST00000493869.2:c.374-8T>C	ENSP00000495713.1:n.374-8T>C
ENST00000650242.1:c.824-8T>C MANE Select	ENSP00000497236.1:n.824-8T>C
ENST00000330807.9:c.824-8T>C	ENSP00000332369.5:n.824-8T>C
ENST00000335854.8:c.713-8T>C	ENSP00000337131.4:n.713-8T>C
ENST00000396198.7:c.785-8T>C	ENSP00000379501.3:n.785-8T>C
ENST00000463868.5:n.541-8T>C
ENST00000477869.5:n.568-8T>C
ENST00000498636.1:n.115-8T>C
NM_000032.4:c.824-8T>C	NP_000023.2:n.824-8T>C
NM_001037967.3:c.713-8T>C	NP_001033056.1:n.713-8T>C
NM_001037968.3:c.785-8T>C	NP_001033057.1:n.785-8T>C
XM_005261995.2:c.896-8T>C	XP_005262052.1:n.896-8T>C
XM_011530771.1:c.-38-8T>C	XP_011529073.1:n.-38-8T>C
NM_000032.5:c.824-8T>C MANE Select	NP_000023.2:n.824-8T>C
NM_001037967.4:c.713-8T>C	NP_001033056.1:n.713-8T>C
NM_001037968.4:c.785-8T>C	NP_001033057.1:n.785-8T>C