Canonical Allele Identifier: CA340128789

Gene: MMACHC

Linked Data

• dbSNP Id: rs777332324
• gnomAD v3: 1-45500406-C-T
• gnomAD v4: 1-45500406-C-T
• MyVariant Identifiers: chr1:g.45966078C>T (hg19) ; chr1:g.45500406C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45500406C>T , CM000663.2:g.45500406C>T	GRCh38
NC_000001.10:g.45966078C>T , CM000663.1:g.45966078C>T	GRCh37
NC_000001.9:g.45738665C>T	NCBI36
NG_013378.1:g.5223C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000401061.9:c.74C>T MANE Select	ENSP00000383840.4:p.Pro25Leu
ENST00000401061.8:c.74C>T	ENSP00000383840.4:p.Pro25Leu
ENST00000616135.1:c.-98C>T	ENSP00000478859.1:n.-98C>T
NM_015506.2:c.74C>T	NP_056321.2:p.Pro25Leu
XM_005270724.3:c.74C>T	XP_005270781.1:p.Pro25Leu
XM_011541204.1:c.-149C>T	XP_011539506.1:n.-149C>T
NM_001330540.1:c.-149C>T	NP_001317469.1:n.-149C>T
XM_005270724.5:c.74C>T	XP_005270781.1:p.Pro25Leu
NM_015506.3:c.74C>T MANE Select	NP_056321.2:p.Pro25Leu
NM_001330540.2:c.-149C>T	NP_001317469.1:n.-149C>T