Canonical Allele Identifier: CA247527

Gene: CHM

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.85956362T>C , CM000685.2:g.85956362T>C	GRCh38
NC_000023.10:g.85211367T>C , CM000685.1:g.85211367T>C	GRCh37
NC_000023.9:g.85098023T>C	NCBI36
NG_009874.2:g.96201A>G , LRG_699:g.96201A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000390.4:c.957A>G MANE Select	NP_000381.1:p.Thr319=
ENST00000357749.7:c.957A>G MANE Select	ENSP00000350386.2:p.Thr319=
NM_000390.2:c.957A>G , LRG_699t1:c.957A>G	NP_000381.1:p.Thr319=
NM_000390.3:c.957A>G	NP_000381.1:p.Thr319=
NM_001320959.1:c.513A>G	NP_001307888.1:p.Thr171=
NM_001362517.1:c.513A>G	NP_001349446.1:p.Thr171=
NM_001362518.1:c.513A>G	NP_001349447.1:p.Thr171=
NM_001362518.2:c.513A>G	NP_001349447.1:p.Thr171=
NM_001362519.1:c.513A>G	NP_001349448.1:p.Thr171=
ENST00000357749.6:c.957A>G	ENSP00000350386.2:p.Thr319=
ENST00000467744.2:n.126+71129A>G
XM_006724615.2:c.894A>G	XP_006724678.1:p.Thr298=
XM_011530839.1:c.513A>G	XP_011529141.1:p.Thr171=
XM_017029242.2:c.957A>G	XP_016884731.1:p.Thr319=
XM_017029246.1:c.513A>G	XP_016884735.1:p.Thr171=
XM_024452331.1:c.513A>G	XP_024308099.1:p.Thr171=