Canonical Allele Identifier: CA349894335

Gene: HIBCH

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.190213023A>T , CM000664.2:g.190213023A>T	GRCh38
NC_000002.11:g.191077749A>T , CM000664.1:g.191077749A>T	GRCh37
NC_000002.10:g.190785994A>T	NCBI36
NG_017062.1:g.112023T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_014362.4:c.944T>A MANE Select	NP_055177.2:p.Met315Lys
ENST00000359678.10:c.944T>A MANE Select	ENSP00000352706.5:p.Met315Lys
NM_014362.3:c.944T>A	NP_055177.2:p.Met315Lys
NM_198047.2:c.944T>A	NP_932164.1:p.Met315Lys
NM_198047.3:c.944T>A	NP_932164.1:p.Met315Lys
ENST00000359678.9:c.944T>A	ENSP00000352706.5:p.Met315Lys
ENST00000392332.7:c.944T>A	ENSP00000376144.3:p.Met315Lys
ENST00000409820.2:c.284T>A	ENSP00000387098.2:p.Met95Lys
ENST00000410045.5:c.275T>A	ENSP00000386274.1:p.Met92Lys
ENST00000416732.5:c.197T>A	ENSP00000399263.1:p.Met66Lys
ENST00000486981.1:n.213T>A
ENST00000489147.1:n.3087T>A
ENST00000622246.4:c.926T>A	ENSP00000481055.1:p.Met309Lys
XM_011510953.1:c.944T>A	XP_011509255.1:p.Met315Lys
XM_011510953.2:c.944T>A	XP_011509255.1:p.Met315Lys
XM_011510954.1:c.446T>A	XP_011509256.1:p.Met149Lys
XR_922903.1:n.1188T>A
XR_922903.2:n.1007T>A