Canonical Allele Identifier: CA340128290

Gene: MMACHC

Linked Data

• MyVariant Identifiers: chr1:g.45966012C>T (hg19) ; chr1:g.45500340C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45500340C>T , CM000663.2:g.45500340C>T	GRCh38
NC_000001.10:g.45966012C>T , CM000663.1:g.45966012C>T	GRCh37
NC_000001.9:g.45738599C>T	NCBI36
NG_013378.1:g.5157C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000401061.9:c.8C>T MANE Select	ENSP00000383840.4:p.Pro3Leu
ENST00000401061.8:c.8C>T	ENSP00000383840.4:p.Pro3Leu
NM_015506.2:c.8C>T	NP_056321.2:p.Pro3Leu
XM_005270724.3:c.8C>T	XP_005270781.1:p.Pro3Leu
XM_011541204.1:c.-215C>T	XP_011539506.1:n.-215C>T
NM_001330540.1:c.-215C>T	NP_001317469.1:n.-215C>T
XM_005270724.5:c.8C>T	XP_005270781.1:p.Pro3Leu
NM_015506.3:c.8C>T MANE Select	NP_056321.2:p.Pro3Leu
NM_001330540.2:c.-215C>T	NP_001317469.1:n.-215C>T