Canonical Allele Identifier: CA340128843

Gene: MMACHC

Linked Data

• MyVariant Identifiers: chr1:g.45966085G>C (hg19) ; chr1:g.45500413G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45500413G>C , CM000663.2:g.45500413G>C	GRCh38
NC_000001.10:g.45966085G>C , CM000663.1:g.45966085G>C	GRCh37
NC_000001.9:g.45738672G>C	NCBI36
NG_013378.1:g.5230G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000401061.9:c.81G>C MANE Select	ENSP00000383840.4:p.Gln27His
ENST00000401061.8:c.81G>C	ENSP00000383840.4:p.Gln27His
ENST00000616135.1:c.-91G>C	ENSP00000478859.1:n.-91G>C
NM_015506.2:c.81G>C	NP_056321.2:p.Gln27His
XM_005270724.3:c.81G>C	XP_005270781.1:p.Gln27His
XM_011541204.1:c.-142G>C	XP_011539506.1:n.-142G>C
NM_001330540.1:c.-142G>C	NP_001317469.1:n.-142G>C
XM_005270724.5:c.81G>C	XP_005270781.1:p.Gln27His
NM_015506.3:c.81G>C MANE Select	NP_056321.2:p.Gln27His
NM_001330540.2:c.-142G>C	NP_001317469.1:n.-142G>C