Canonical Allele Identifier: CA340133300

Gene: MMACHC

Linked Data

• MyVariant Identifiers: chr1:g.45974559T>G (hg19) ; chr1:g.45508887T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45508887T>G , CM000663.2:g.45508887T>G	GRCh38
NC_000001.10:g.45974559T>G , CM000663.1:g.45974559T>G	GRCh37
NC_000001.9:g.45747146T>G	NCBI36
NG_013378.1:g.13704T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000401061.9:c.521T>G MANE Select	ENSP00000383840.4:p.Leu174Arg
ENST00000401061.8:c.521T>G	ENSP00000383840.4:p.Leu174Arg
ENST00000616135.1:c.350T>G	ENSP00000478859.1:p.Leu117Arg
NM_015506.2:c.521T>G	NP_056321.2:p.Leu174Arg
XM_005270724.3:c.326T>G	XP_005270781.1:p.Leu109Arg
XM_011541204.1:c.350T>G	XP_011539506.1:p.Leu117Arg
NM_001330540.1:c.350T>G	NP_001317469.1:p.Leu117Arg
XM_005270724.5:c.326T>G	XP_005270781.1:p.Leu109Arg
NM_015506.3:c.521T>G MANE Select	NP_056321.2:p.Leu174Arg
NM_001330540.2:c.350T>G	NP_001317469.1:p.Leu117Arg