Canonical Allele Identifier: CA340132549

Gene: MMACHC

Linked Data

• ClinVar Variation Id: 558633
• ClinVar RCV Id: RCV000674933
• dbSNP Id: rs1553162868
• MyVariant Identifiers: chr1:g.45974034C>T (hg19) ; chr1:g.45508362C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45508362C>T , CM000663.2:g.45508362C>T	GRCh38
NC_000001.10:g.45974034C>T , CM000663.1:g.45974034C>T	GRCh37
NC_000001.9:g.45746621C>T	NCBI36
NG_013378.1:g.13179C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000401061.9:c.427C>T MANE Select	ENSP00000383840.4:p.Gln143Ter
ENST00000401061.8:c.427C>T	ENSP00000383840.4:p.Gln143Ter
ENST00000616135.1:c.256C>T	ENSP00000478859.1:p.Gln86Ter
NM_015506.2:c.427C>T	NP_056321.2:p.Gln143Ter
XM_005270724.3:c.232C>T	XP_005270781.1:p.Gln78Ter
XM_011541204.1:c.256C>T	XP_011539506.1:p.Gln86Ter
NM_001330540.1:c.256C>T	NP_001317469.1:p.Gln86Ter
XM_005270724.5:c.232C>T	XP_005270781.1:p.Gln78Ter
NM_015506.3:c.427C>T MANE Select	NP_056321.2:p.Gln143Ter
NM_001330540.2:c.256C>T	NP_001317469.1:p.Gln86Ter