Canonical Allele Identifier: CA2442451020

Gene: CHM

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.85878981A= , CM000685.2:g.85878981A=	GRCh38
NC_000023.10:g.85133986A= , CM000685.1:g.85133986A=	GRCh37
NC_000023.9:g.85020642A=	NCBI36
NG_009874.2:g.173582T= , LRG_699:g.173582T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357749.7:c.1593T= MANE Select	ENSP00000350386.2:p.Tyr531=
ENST00000357749.6:c.1593T=	ENSP00000350386.2:p.Tyr531=
ENST00000467744.2:n.127-15887T=
NM_000390.2:c.1593T= , LRG_699t1:c.1593T=	NP_000381.1:p.Tyr531=
XM_006724615.2:c.1530T=	XP_006724678.1:p.Tyr510=
XM_011530839.1:c.1149T=	XP_011529141.1:p.Tyr383=
NM_000390.3:c.1593T=	NP_000381.1:p.Tyr531=
NM_001320959.1:c.1149T=	NP_001307888.1:p.Tyr383=
NM_001362517.1:c.1149T=	NP_001349446.1:p.Tyr383=
NM_001362518.1:c.1149T=	NP_001349447.1:p.Tyr383=
NM_001362519.1:c.1149T=	NP_001349448.1:p.Tyr383=
XM_017029242.2:c.1593T=	XP_016884731.1:p.Tyr531=
XM_017029246.1:c.1149T=	XP_016884735.1:p.Tyr383=
XM_024452331.1:c.1149T=	XP_024308099.1:p.Tyr383=
NM_000390.4:c.1593T= MANE Select	NP_000381.1:p.Tyr531=
NM_001362518.2:c.1149T=	NP_001349447.1:p.Tyr383=