Canonical Allele Identifier: CA2027328

Gene: HIBCH

Linked Data

• dbSNP Id: rs755579997
• ExAC: 2:191069808 C / T
• gnomAD v2: 2-191069808-C-T
• gnomAD v4: 2-190205082-C-T
• MyVariant Identifiers: chr2:g.191069808C>T (hg19) ; chr2:g.190205082C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.190205082C>T , CM000664.2:g.190205082C>T	GRCh38
NC_000002.11:g.191069808C>T , CM000664.1:g.191069808C>T	GRCh37
NC_000002.10:g.190778053C>T	NCBI36
NG_017062.1:g.119964G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000359678.10:c.*35G>A MANE Select	ENSP00000352706.5:n.*35G>A
ENST00000359678.9:c.*35G>A	ENSP00000352706.5:n.*35G>A
ENST00000392332.7:c.*145G>A	ENSP00000376144.3:n.*145G>A
ENST00000399855.2:c.133+18G>A
ENST00000410045.5:c.*35G>A	ENSP00000386274.1:n.*35G>A
ENST00000486981.1:n.413+18G>A
ENST00000622246.4:c.*35G>A	ENSP00000481055.1:n.*35G>A
NM_014362.3:c.*35G>A	NP_055177.2:n.*35G>A
NM_198047.2:c.*145G>A	NP_932164.1:n.*145G>A
XM_011510953.1:c.*17+18G>A	XP_011509255.1:n.*17+18G>A
XM_011510954.1:c.*35G>A	XP_011509256.1:n.*35G>A
XR_922903.1:n.1388+18G>A
XM_011510953.2:c.*17+18G>A	XP_011509255.1:n.*17+18G>A
XR_922903.2:n.1207+18G>A
NM_014362.4:c.*35G>A MANE Select	NP_055177.2:n.*35G>A
NM_198047.3:c.*145G>A	NP_932164.1:n.*145G>A