Canonical Allele Identifier: CA358002530

Gene: UGT8

Linked Data

• MyVariant Identifiers: chr4:g.115544779T>C (hg19) ; chr4:g.114623623T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.114623623T>C , CM000666.2:g.114623623T>C	GRCh38
NC_000004.11:g.115544779T>C , CM000666.1:g.115544779T>C	GRCh37
NC_000004.10:g.115764228T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000310836.11:c.743T>C MANE Select	ENSP00000311648.6:p.Leu248Pro
ENST00000310836.10:c.743T>C	ENSP00000311648.6:p.Leu248Pro
ENST00000394511.3:c.743T>C	ENSP00000378019.3:p.Leu248Pro
NM_001128174.1:c.743T>C	NP_001121646.1:p.Leu248Pro
NM_003360.3:c.743T>C	NP_003351.2:p.Leu248Pro
XM_006714302.2:c.743T>C	XP_006714365.1:p.Leu248Pro
XM_006714303.2:c.743T>C	XP_006714366.1:p.Leu248Pro
XM_011532232.1:c.743T>C	XP_011530534.1:p.Leu248Pro
NM_001128174.2:c.743T>C	NP_001121646.1:p.Leu248Pro
NM_001322112.1:c.743T>C	NP_001309041.1:p.Leu248Pro
NM_001322113.1:c.743T>C	NP_001309042.1:p.Leu248Pro
NM_001322114.1:c.743T>C	NP_001309043.1:p.Leu248Pro
NM_003360.4:c.743T>C	NP_003351.2:p.Leu248Pro
XM_024454207.1:c.743T>C	XP_024309975.1:p.Leu248Pro
XM_024454208.1:c.743T>C	XP_024309976.1:p.Leu248Pro
XM_024454209.1:c.743T>C	XP_024309977.1:p.Leu248Pro
XM_024454210.1:c.743T>C	XP_024309978.1:p.Leu248Pro
XM_024454211.1:c.743T>C	XP_024309979.1:p.Leu248Pro
NM_001128174.3:c.743T>C MANE Select	NP_001121646.2:p.Leu248Pro
NM_001322114.2:c.743T>C	NP_001309043.2:p.Leu248Pro
NM_003360.5:c.743T>C	NP_003351.3:p.Leu248Pro
NM_001322112.2:c.743T>C	NP_001309041.2:p.Leu248Pro
NM_001322113.2:c.743T>C	NP_001309042.2:p.Leu248Pro