Canonical Allele Identifier: CA340132122

Gene: MMACHC

Linked Data

• MyVariant Identifiers: chr1:g.45973900A>C (hg19) ; chr1:g.45508228A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45508228A>C , CM000663.2:g.45508228A>C	GRCh38
NC_000001.10:g.45973900A>C , CM000663.1:g.45973900A>C	GRCh37
NC_000001.9:g.45746487A>C	NCBI36
NG_013378.1:g.13045A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000401061.9:c.293A>C MANE Select	ENSP00000383840.4:p.Gln98Pro
ENST00000401061.8:c.293A>C	ENSP00000383840.4:p.Gln98Pro
ENST00000616135.1:c.122A>C	ENSP00000478859.1:p.Gln41Pro
NM_015506.2:c.293A>C	NP_056321.2:p.Gln98Pro
XM_005270724.3:c.98A>C	XP_005270781.1:p.Gln33Pro
XM_011541204.1:c.122A>C	XP_011539506.1:p.Gln41Pro
NM_001330540.1:c.122A>C	NP_001317469.1:p.Gln41Pro
XM_005270724.5:c.98A>C	XP_005270781.1:p.Gln33Pro
NM_015506.3:c.293A>C MANE Select	NP_056321.2:p.Gln98Pro
NM_001330540.2:c.122A>C	NP_001317469.1:p.Gln41Pro