Canonical Allele Identifier: CA413789585

Gene: CHM

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.85901099G>T , CM000685.2:g.85901099G>T	GRCh38
NC_000023.10:g.85156104G>T , CM000685.1:g.85156104G>T	GRCh37
NC_000023.9:g.85042760G>T	NCBI36
NG_009874.2:g.151464C>A , LRG_699:g.151464C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357749.7:c.1334C>A MANE Select	ENSP00000350386.2:p.Ser445Ter
ENST00000357749.6:c.1334C>A	ENSP00000350386.2:p.Ser445Ter
ENST00000467744.2:n.127-38005C>A
NM_000390.2:c.1334C>A , LRG_699t1:c.1334C>A	NP_000381.1:p.Ser445Ter
XM_006724615.2:c.1271C>A	XP_006724678.1:p.Ser424Ter
XM_011530839.1:c.890C>A	XP_011529141.1:p.Ser297Ter
NM_000390.3:c.1334C>A	NP_000381.1:p.Ser445Ter
NM_001320959.1:c.890C>A	NP_001307888.1:p.Ser297Ter
NM_001362517.1:c.890C>A	NP_001349446.1:p.Ser297Ter
NM_001362518.1:c.890C>A	NP_001349447.1:p.Ser297Ter
NM_001362519.1:c.890C>A	NP_001349448.1:p.Ser297Ter
XM_017029242.2:c.1334C>A	XP_016884731.1:p.Ser445Ter
XM_017029246.1:c.890C>A	XP_016884735.1:p.Ser297Ter
XM_024452331.1:c.890C>A	XP_024308099.1:p.Ser297Ter
NM_000390.4:c.1334C>A MANE Select	NP_000381.1:p.Ser445Ter
NM_001362518.2:c.890C>A	NP_001349447.1:p.Ser297Ter