Canonical Allele Identifier: CA1133278503

Gene: ALAS2

Linked Data

• dbSNP Id: rs1935683147
• gnomAD v3: X-55015491-C-A
• gnomAD v4: X-55015491-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.55015491C>A , CM000685.2:g.55015491C>A	GRCh38
NC_000023.10:g.55041924C>A , CM000685.1:g.55041924C>A	GRCh37
NC_000023.9:g.55058649C>A	NCBI36
NG_008983.1:g.20574G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000650242.1:c.1168+87G>T MANE Select	ENSP00000497236.1:n.1168+87G>T
ENST00000330807.9:c.1168+87G>T	ENSP00000332369.5:n.1168+87G>T
ENST00000335854.8:c.1057+87G>T	ENSP00000337131.4:n.1057+87G>T
ENST00000396198.7:c.1129+87G>T	ENSP00000379501.3:n.1129+87G>T
ENST00000498636.1:n.459+87G>T
NM_000032.4:c.1168+87G>T	NP_000023.2:n.1168+87G>T
NM_001037967.3:c.1057+87G>T	NP_001033056.1:n.1057+87G>T
NM_001037968.3:c.1129+87G>T	NP_001033057.1:n.1129+87G>T
XM_005261995.2:c.1240+87G>T	XP_005262052.1:n.1240+87G>T
XM_011530771.1:c.307+87G>T	XP_011529073.1:n.307+87G>T
NM_000032.5:c.1168+87G>T MANE Select	NP_000023.2:n.1168+87G>T
NM_001037967.4:c.1057+87G>T	NP_001033056.1:n.1057+87G>T
NM_001037968.4:c.1129+87G>T	NP_001033057.1:n.1129+87G>T