Canonical Allele Identifier: CA827734

Gene: MMACHC

Linked Data

• dbSNP Id: rs763454470
• ExAC: 1:45974041 G / C
• gnomAD v2: 1-45974041-G-C
• MyVariant Identifiers: chr1:g.45974041G>C (hg19) ; chr1:g.45508369G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45508369G>C , CM000663.2:g.45508369G>C	GRCh38
NC_000001.10:g.45974041G>C , CM000663.1:g.45974041G>C	GRCh37
NC_000001.9:g.45746628G>C	NCBI36
NG_013378.1:g.13186G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000401061.9:c.429+5G>C MANE Select	ENSP00000383840.4:n.429+5G>C
ENST00000401061.8:c.429+5G>C	ENSP00000383840.4:n.429+5G>C
ENST00000616135.1:c.258+5G>C	ENSP00000478859.1:n.258+5G>C
NM_015506.2:c.429+5G>C	NP_056321.2:n.429+5G>C
XM_005270724.3:c.234+5G>C	XP_005270781.1:n.234+5G>C
XM_011541204.1:c.258+5G>C	XP_011539506.1:n.258+5G>C
NM_001330540.1:c.258+5G>C	NP_001317469.1:n.258+5G>C
XM_005270724.5:c.234+5G>C	XP_005270781.1:n.234+5G>C
NM_015506.3:c.429+5G>C MANE Select	NP_056321.2:n.429+5G>C
NM_001330540.2:c.258+5G>C	NP_001317469.1:n.258+5G>C