Canonical Allele Identifier: CA340133673

Gene: MMACHC

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000401061.9:c.611C>G MANE Select	ENSP00000383840.4:p.Thr204Ser
ENST00000401061.8:c.611C>G	ENSP00000383840.4:p.Thr204Ser
ENST00000616135.1:c.440C>G	ENSP00000478859.1:p.Thr147Ser
NM_015506.2:c.611C>G	NP_056321.2:p.Thr204Ser
XM_005270724.3:c.416C>G	XP_005270781.1:p.Thr139Ser
XM_011541204.1:c.440C>G	XP_011539506.1:p.Thr147Ser
NM_001330540.1:c.440C>G	NP_001317469.1:p.Thr147Ser
XM_005270724.5:c.416C>G	XP_005270781.1:p.Thr139Ser
NM_015506.3:c.611C>G MANE Select	NP_056321.2:p.Thr204Ser
NM_001330540.2:c.440C>G	NP_001317469.1:p.Thr147Ser