Canonical Allele Identifier: CA349894334

Gene: HIBCH

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
NM_014362.4:c.944T>C MANE Select	NP_055177.2:p.Met315Thr
ENST00000359678.10:c.944T>C MANE Select	ENSP00000352706.5:p.Met315Thr
NM_014362.3:c.944T>C	NP_055177.2:p.Met315Thr
NM_198047.2:c.944T>C	NP_932164.1:p.Met315Thr
NM_198047.3:c.944T>C	NP_932164.1:p.Met315Thr
ENST00000359678.9:c.944T>C	ENSP00000352706.5:p.Met315Thr
ENST00000392332.7:c.944T>C	ENSP00000376144.3:p.Met315Thr
ENST00000409820.2:c.284T>C	ENSP00000387098.2:p.Met95Thr
ENST00000410045.5:c.275T>C	ENSP00000386274.1:p.Met92Thr
ENST00000416732.5:c.197T>C	ENSP00000399263.1:p.Met66Thr
ENST00000486981.1:n.213T>C
ENST00000489147.1:n.3087T>C
ENST00000622246.4:c.926T>C	ENSP00000481055.1:p.Met309Thr
XM_011510953.1:c.944T>C	XP_011509255.1:p.Met315Thr
XM_011510953.2:c.944T>C	XP_011509255.1:p.Met315Thr
XM_011510954.1:c.446T>C	XP_011509256.1:p.Met149Thr
XR_922903.1:n.1188T>C
XR_922903.2:n.1007T>C