Canonical Allele Identifier: CA340133671

Gene: MMACHC

Linked Data

• MyVariant Identifiers: chr1:g.45974649C>A (hg19) ; chr1:g.45508977C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45508977C>A , CM000663.2:g.45508977C>A	GRCh38
NC_000001.10:g.45974649C>A , CM000663.1:g.45974649C>A	GRCh37
NC_000001.9:g.45747236C>A	NCBI36
NG_013378.1:g.13794C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000401061.9:c.611C>A MANE Select	ENSP00000383840.4:p.Thr204Asn
ENST00000401061.8:c.611C>A	ENSP00000383840.4:p.Thr204Asn
ENST00000616135.1:c.440C>A	ENSP00000478859.1:p.Thr147Asn
NM_015506.2:c.611C>A	NP_056321.2:p.Thr204Asn
XM_005270724.3:c.416C>A	XP_005270781.1:p.Thr139Asn
XM_011541204.1:c.440C>A	XP_011539506.1:p.Thr147Asn
NM_001330540.1:c.440C>A	NP_001317469.1:p.Thr147Asn
XM_005270724.5:c.416C>A	XP_005270781.1:p.Thr139Asn
NM_015506.3:c.611C>A MANE Select	NP_056321.2:p.Thr204Asn
NM_001330540.2:c.440C>A	NP_001317469.1:p.Thr147Asn