Canonical Allele Identifier: CA340133496

Gene: MMACHC

Linked Data

• MyVariant Identifiers: chr1:g.45974608C>G (hg19) ; chr1:g.45508936C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45508936C>G , CM000663.2:g.45508936C>G	GRCh38
NC_000001.10:g.45974608C>G , CM000663.1:g.45974608C>G	GRCh37
NC_000001.9:g.45747195C>G	NCBI36
NG_013378.1:g.13753C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000401061.9:c.570C>G MANE Select	ENSP00000383840.4:p.Ile190Met
ENST00000401061.8:c.570C>G	ENSP00000383840.4:p.Ile190Met
ENST00000616135.1:c.399C>G	ENSP00000478859.1:p.Ile133Met
NM_015506.2:c.570C>G	NP_056321.2:p.Ile190Met
XM_005270724.3:c.375C>G	XP_005270781.1:p.Ile125Met
XM_011541204.1:c.399C>G	XP_011539506.1:p.Ile133Met
NM_001330540.1:c.399C>G	NP_001317469.1:p.Ile133Met
XM_005270724.5:c.375C>G	XP_005270781.1:p.Ile125Met
NM_015506.3:c.570C>G MANE Select	NP_056321.2:p.Ile190Met
NM_001330540.2:c.399C>G	NP_001317469.1:p.Ile133Met