Canonical Allele Identifier: CA10465621

Gene: CHM

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.85978876C>G , CM000685.2:g.85978876C>G	GRCh38
NC_000023.10:g.85233880C>G , CM000685.1:g.85233880C>G	GRCh37
NC_000023.9:g.85120536C>G	NCBI36
NG_009874.2:g.73687G>C , LRG_699:g.73687G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000390.4:c.205G>C MANE Select	NP_000381.1:p.Val69Leu
ENST00000357749.7:c.205G>C MANE Select	ENSP00000350386.2:p.Val69Leu
NM_000390.2:c.205G>C , LRG_699t1:c.205G>C	NP_000381.1:p.Val69Leu
NM_000390.3:c.205G>C	NP_000381.1:p.Val69Leu
NM_001145414.2:c.205G>C , LRG_699t2:c.205G>C	NP_001138886.1:p.Val69Leu
NM_001145414.3:c.205G>C	NP_001138886.1:p.Val69Leu
NM_001145414.4:c.205G>C	NP_001138886.1:p.Val69Leu
NM_001320959.1:c.-240G>C	NP_001307888.1:n.-240G>C
NM_001362517.1:c.-240G>C	NP_001349446.1:n.-240G>C
NM_001362518.1:c.-236G>C	NP_001349447.1:n.-236G>C
NM_001362518.2:c.-236G>C	NP_001349447.1:n.-236G>C
NM_001362519.1:c.-236G>C	NP_001349448.1:n.-236G>C
ENST00000357749.6:c.205G>C	ENSP00000350386.2:p.Val69Leu
ENST00000467744.2:n.126+48615G>C
ENST00000487515.1:n.89G>C
ENST00000615443.1:c.205G>C	ENSP00000484306.1:p.Val69Leu
XM_006724615.2:c.142G>C	XP_006724678.1:p.Val48Leu
XM_011530839.1:c.-240G>C	XP_011529141.1:n.-240G>C
XM_017029242.2:c.205G>C	XP_016884731.1:p.Val69Leu
XM_017029246.1:c.-236G>C	XP_016884735.1:n.-236G>C
XM_024452331.1:c.-240G>C	XP_024308099.1:n.-240G>C