Canonical Allele Identifier: CA6318023

Gene: DRC12

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119190335G>T , CM000673.2:g.119190335G>T	GRCh38
NC_000011.9:g.119061044G>T , CM000673.1:g.119061044G>T	GRCh37
NC_000011.8:g.118566254G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_001145018.3:c.598C>A MANE Select	NP_001138490.1:p.Pro200Thr
ENST00000503566.7:c.598C>A MANE Select	ENSP00000423567.2:p.Pro200Thr
NM_001145018.1:c.598C>A	NP_001138490.1:p.Pro200Thr
NM_001145018.2:c.598C>A	NP_001138490.1:p.Pro200Thr
ENST00000375140.7:n.1616C>A
ENST00000415318.2:c.598C>A	ENSP00000445431.1:p.Pro200Thr
ENST00000503566.6:c.598C>A	ENSP00000423567.2:p.Pro200Thr
XM_006718818.2:c.514C>A	XP_006718881.1:p.Pro172Thr
XM_006718821.2:c.769C>A	XP_006718884.1:p.Pro257Thr
XM_011542759.1:c.598C>A	XP_011541061.1:p.Pro200Thr
XM_011542760.1:c.*87C>A	XP_011541062.1:n.*87C>A
XM_011542761.1:c.478C>A	XP_011541063.1:p.Pro160Thr
XM_011542762.1:c.*87C>A	XP_011541064.1:n.*87C>A
XM_011542763.1:c.1078C>A	XP_011541065.1:p.Pro360Thr
XM_011542764.1:c.1078C>A	XP_011541066.1:p.Pro360Thr
XM_011542765.1:c.1078C>A	XP_011541067.1:p.Pro360Thr
XM_011542766.1:c.385C>A	XP_011541068.1:p.Pro129Thr
XM_011542769.1:c.784C>A	XP_011541071.1:p.Pro262Thr
XM_011542770.1:c.598C>A	XP_011541072.1:p.Pro200Thr
XM_011542771.1:c.574C>A	XP_011541073.1:p.Pro192Thr
XM_011542772.1:c.574C>A	XP_011541074.1:p.Pro192Thr
XM_011542773.1:c.784C>A	XP_011541075.1:p.Pro262Thr
XM_011542774.1:c.784C>A	XP_011541076.1:p.Pro262Thr
XR_947824.1:n.973C>A