Canonical Allele Identifier: CA349896230
Gene: HIBCH HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.190294563G>T , CM000664.2:g.190294563G>T GRCh38
NC_000002.11:g.191159289G>T , CM000664.1:g.191159289G>T GRCh37
NC_000002.10:g.190867534G>T NCBI36
NG_017062.1:g.30483C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000359678.10:c.287C>A MANE Select ENSP00000352706.5:p.Ala96Asp
ENST00000359678.9:c.287C>A ENSP00000352706.5:p.Ala96Asp
ENST00000392332.7:c.287C>A ENSP00000376144.3:p.Ala96Asp
ENST00000409934.1:c.449C>A ENSP00000387247.1:p.Ala150Asp
ENST00000622246.4:c.272C>A ENSP00000481055.1:p.Ala91Asp
NM_014362.3:c.287C>A NP_055177.2:p.Ala96Asp
NM_198047.2:c.287C>A NP_932164.1:p.Ala96Asp
XM_011510953.1:c.287C>A XP_011509255.1:p.Ala96Asp
XR_922903.1:n.531C>A
XM_011510953.2:c.287C>A XP_011509255.1:p.Ala96Asp
XR_922903.2:n.350C>A
NM_014362.4:c.287C>A MANE Select NP_055177.2:p.Ala96Asp
NM_198047.3:c.287C>A NP_932164.1:p.Ala96Asp
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