Canonical Allele Identifier: CA6318090

Gene: DRC12

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119190823C>G , CM000673.2:g.119190823C>G	GRCh38
NC_000011.9:g.119061532C>G , CM000673.1:g.119061532C>G	GRCh37
NC_000011.8:g.118566742C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_001145018.3:c.367G>C MANE Select	NP_001138490.1:p.Ala123Pro
ENST00000503566.7:c.367G>C MANE Select	ENSP00000423567.2:p.Ala123Pro
NM_001145018.1:c.367G>C	NP_001138490.1:p.Ala123Pro
NM_001145018.2:c.367G>C	NP_001138490.1:p.Ala123Pro
ENST00000375140.7:n.1385G>C
ENST00000415318.2:c.367G>C	ENSP00000445431.1:p.Ala123Pro
ENST00000503566.6:c.367G>C	ENSP00000423567.2:p.Ala123Pro
XM_006718818.2:c.283G>C	XP_006718881.1:p.Ala95Pro
XM_006718821.2:c.538G>C	XP_006718884.1:p.Ala180Pro
XM_011542759.1:c.367G>C	XP_011541061.1:p.Ala123Pro
XM_011542760.1:c.474G>C	XP_011541062.1:p.Arg158Ser
XM_011542761.1:c.247G>C	XP_011541063.1:p.Ala83Pro
XM_011542762.1:c.354G>C	XP_011541064.1:p.Arg118Ser
XM_011542763.1:c.847G>C	XP_011541065.1:p.Ala283Pro
XM_011542764.1:c.847G>C	XP_011541066.1:p.Ala283Pro
XM_011542765.1:c.847G>C	XP_011541067.1:p.Ala283Pro
XM_011542766.1:c.154G>C	XP_011541068.1:p.Ala52Pro
XM_011542769.1:c.553G>C	XP_011541071.1:p.Ala185Pro
XM_011542770.1:c.367G>C	XP_011541072.1:p.Ala123Pro
XM_011542771.1:c.343G>C	XP_011541073.1:p.Ala115Pro
XM_011542772.1:c.343G>C	XP_011541074.1:p.Ala115Pro
XM_011542773.1:c.553G>C	XP_011541075.1:p.Ala185Pro
XM_011542774.1:c.553G>C	XP_011541076.1:p.Ala185Pro
XR_947824.1:n.742G>C