Canonical Allele Identifier: CA417704711

Gene: MMACHC

Linked Data

• MyVariant Identifiers: chr1:g.45973198C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45507526C>G , CM000663.2:g.45507526C>G	GRCh38
NC_000001.10:g.45973198C>G , CM000663.1:g.45973198C>G	GRCh37
NC_000001.9:g.45745785C>G	NCBI36
NG_013378.1:g.12343C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000401061.9:c.252C>G MANE Select	ENSP00000383840.4:p.Ala84=
ENST00000401061.8:c.252C>G	ENSP00000383840.4:p.Ala84=
ENST00000616135.1:c.81C>G	ENSP00000478859.1:p.Ala27=
NM_015506.2:c.252C>G	NP_056321.2:p.Ala84=
XM_005270724.3:c.82-686C>G	XP_005270781.1:n.82-686C>G
XM_011541204.1:c.81C>G	XP_011539506.1:p.Ala27=
NM_001330540.1:c.81C>G	NP_001317469.1:p.Ala27=
XM_005270724.5:c.82-686C>G	XP_005270781.1:n.82-686C>G
NM_015506.3:c.252C>G MANE Select	NP_056321.2:p.Ala84=
NM_001330540.2:c.81C>G	NP_001317469.1:p.Ala27=