Canonical Allele Identifier: CA349893480

Gene: HIBCH

Linked Data

• MyVariant Identifiers: chr2:g.191069934G>A (hg19) ; chr2:g.190205208G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.190205208G>A , CM000664.2:g.190205208G>A	GRCh38
NC_000002.11:g.191069934G>A , CM000664.1:g.191069934G>A	GRCh37
NC_000002.10:g.190778179G>A	NCBI36
NG_017062.1:g.119838C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359678.10:c.1070C>T MANE Select	ENSP00000352706.5:p.Pro357Leu
ENST00000359678.9:c.1070C>T	ENSP00000352706.5:p.Pro357Leu
ENST00000392332.7:c.*19C>T	ENSP00000376144.3:n.*19C>T
ENST00000399855.2:c.25C>T
ENST00000410045.5:c.401C>T	ENSP00000386274.1:p.Pro134Leu
ENST00000486981.1:n.305C>T
ENST00000622246.4:c.1052C>T	ENSP00000481055.1:p.Pro351Leu
NM_014362.3:c.1070C>T	NP_055177.2:p.Pro357Leu
NM_198047.2:c.*19C>T	NP_932164.1:n.*19C>T
XM_011510953.1:c.1070C>T	XP_011509255.1:p.Pro357Leu
XM_011510954.1:c.572C>T	XP_011509256.1:p.Pro191Leu
XR_922903.1:n.1280C>T
XM_011510953.2:c.1070C>T	XP_011509255.1:p.Pro357Leu
XR_922903.2:n.1099C>T
NM_014362.4:c.1070C>T MANE Select	NP_055177.2:p.Pro357Leu
NM_198047.3:c.*19C>T	NP_932164.1:n.*19C>T