Canonical Allele Identifier: CA349893572

Gene: HIBCH

Linked Data

• gnomAD v4: 2-190205221-T-C
• MyVariant Identifiers: chr2:g.191069947T>C (hg19) ; chr2:g.190205221T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.190205221T>C , CM000664.2:g.190205221T>C	GRCh38
NC_000002.11:g.191069947T>C , CM000664.1:g.191069947T>C	GRCh37
NC_000002.10:g.190778192T>C	NCBI36
NG_017062.1:g.119825A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359678.10:c.1057A>G MANE Select	ENSP00000352706.5:p.Lys353Glu
ENST00000359678.9:c.1057A>G	ENSP00000352706.5:p.Lys353Glu
ENST00000392332.7:c.*6A>G	ENSP00000376144.3:n.*6A>G
ENST00000399855.2:c.12A>G
ENST00000410045.5:c.388A>G	ENSP00000386274.1:p.Lys130Glu
ENST00000486981.1:n.292A>G
ENST00000622246.4:c.1039A>G	ENSP00000481055.1:p.Lys347Glu
NM_014362.3:c.1057A>G	NP_055177.2:p.Lys353Glu
NM_198047.2:c.*6A>G	NP_932164.1:n.*6A>G
XM_011510953.1:c.1057A>G	XP_011509255.1:p.Lys353Glu
XM_011510954.1:c.559A>G	XP_011509256.1:p.Lys187Glu
XR_922903.1:n.1267A>G
XM_011510953.2:c.1057A>G	XP_011509255.1:p.Lys353Glu
XR_922903.2:n.1086A>G
NM_014362.4:c.1057A>G MANE Select	NP_055177.2:p.Lys353Glu
NM_198047.3:c.*6A>G	NP_932164.1:n.*6A>G