Canonical Allele Identifier: CA340131452

Gene: MMACHC

Linked Data

• MyVariant Identifiers: chr1:g.45973076C>T (hg19) ; chr1:g.45507404C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45507404C>T , CM000663.2:g.45507404C>T	GRCh38
NC_000001.10:g.45973076C>T , CM000663.1:g.45973076C>T	GRCh37
NC_000001.9:g.45745663C>T	NCBI36
NG_013378.1:g.12221C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000401061.9:c.130C>T MANE Select	ENSP00000383840.4:p.Pro44Ser
ENST00000401061.8:c.130C>T	ENSP00000383840.4:p.Pro44Ser
ENST00000616135.1:c.-42C>T	ENSP00000478859.1:n.-42C>T
NM_015506.2:c.130C>T	NP_056321.2:p.Pro44Ser
XM_005270724.3:c.82-808C>T	XP_005270781.1:n.82-808C>T
XM_011541204.1:c.-42C>T	XP_011539506.1:n.-42C>T
NM_001330540.1:c.-42C>T	NP_001317469.1:n.-42C>T
XM_005270724.5:c.82-808C>T	XP_005270781.1:n.82-808C>T
NM_015506.3:c.130C>T MANE Select	NP_056321.2:p.Pro44Ser
NM_001330540.2:c.-42C>T	NP_001317469.1:n.-42C>T