Canonical Allele Identifier: CA417703417

Gene: MMACHC

Linked Data

• MyVariant Identifiers: chr1:g.45966028G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45500356G>C , CM000663.2:g.45500356G>C	GRCh38
NC_000001.10:g.45966028G>C , CM000663.1:g.45966028G>C	GRCh37
NC_000001.9:g.45738615G>C	NCBI36
NG_013378.1:g.5173G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000401061.9:c.24G>C MANE Select	ENSP00000383840.4:p.Leu8=
ENST00000401061.8:c.24G>C	ENSP00000383840.4:p.Leu8=
ENST00000616135.1:c.-148G>C	ENSP00000478859.1:n.-148G>C
NM_015506.2:c.24G>C	NP_056321.2:p.Leu8=
XM_005270724.3:c.24G>C	XP_005270781.1:p.Leu8=
XM_011541204.1:c.-199G>C	XP_011539506.1:n.-199G>C
NM_001330540.1:c.-199G>C	NP_001317469.1:n.-199G>C
XM_005270724.5:c.24G>C	XP_005270781.1:p.Leu8=
NM_015506.3:c.24G>C MANE Select	NP_056321.2:p.Leu8=
NM_001330540.2:c.-199G>C	NP_001317469.1:n.-199G>C