Canonical Allele Identifier: CA340132175

Gene: MMACHC

Linked Data

• MyVariant Identifiers: chr1:g.45973923G>C (hg19) ; chr1:g.45508251G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45508251G>C , CM000663.2:g.45508251G>C	GRCh38
NC_000001.10:g.45973923G>C , CM000663.1:g.45973923G>C	GRCh37
NC_000001.9:g.45746510G>C	NCBI36
NG_013378.1:g.13068G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000401061.9:c.316G>C MANE Select	ENSP00000383840.4:p.Glu106Gln
ENST00000401061.8:c.316G>C	ENSP00000383840.4:p.Glu106Gln
ENST00000616135.1:c.145G>C	ENSP00000478859.1:p.Glu49Gln
NM_015506.2:c.316G>C	NP_056321.2:p.Glu106Gln
XM_005270724.3:c.121G>C	XP_005270781.1:p.Glu41Gln
XM_011541204.1:c.145G>C	XP_011539506.1:p.Glu49Gln
NM_001330540.1:c.145G>C	NP_001317469.1:p.Glu49Gln
XM_005270724.5:c.121G>C	XP_005270781.1:p.Glu41Gln
NM_015506.3:c.316G>C MANE Select	NP_056321.2:p.Glu106Gln
NM_001330540.2:c.145G>C	NP_001317469.1:p.Glu49Gln