Canonical Allele Identifier: CA323420
Gene: ALAS2 HGNC NCBI

Linked Data

dbSNP Id: rs863223905
MyVariant Identifiers: chrX:g.55042100T>C (hg19) chrX:g.55015667T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.55015667T>C , CM000685.2:g.55015667T>C GRCh38
NC_000023.10:g.55042100T>C , CM000685.1:g.55042100T>C GRCh37
NC_000023.9:g.55058825T>C NCBI36
NG_008983.1:g.20398A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000650242.1:c.1079A>G MANE Select ENSP00000497236.1:p.His360Arg
ENST00000330807.9:c.1079A>G ENSP00000332369.5:p.His360Arg
ENST00000335854.8:c.968A>G ENSP00000337131.4:p.His323Arg
ENST00000396198.7:c.1040A>G ENSP00000379501.3:p.His347Arg
ENST00000498636.1:n.370A>G
NM_000032.4:c.1079A>G NP_000023.2:p.His360Arg
NM_001037967.3:c.968A>G NP_001033056.1:p.His323Arg
NM_001037968.3:c.1040A>G NP_001033057.1:p.His347Arg
XM_005261995.2:c.1151A>G XP_005262052.1:p.His384Arg
XM_011530771.1:c.218A>G XP_011529073.1:p.His73Arg
NM_000032.5:c.1079A>G MANE Select NP_000023.2:p.His360Arg
NM_001037967.4:c.968A>G NP_001033056.1:p.His323Arg
NM_001037968.4:c.1040A>G NP_001033057.1:p.His347Arg
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