Canonical Allele Identifier: CA2580062920

Gene: MMACHC

Linked Data

• ClinVar Variation Id: 2198197
• ClinVar RCV Id: RCV002629203
• gnomAD v4: 1-45508384-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45508384T>C , CM000663.2:g.45508384T>C	GRCh38
NC_000001.10:g.45974056T>C , CM000663.1:g.45974056T>C	GRCh37
NC_000001.9:g.45746643T>C	NCBI36
NG_013378.1:g.13201T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000401061.9:c.429+20T>C MANE Select	ENSP00000383840.4:n.429+20T>C
ENST00000401061.8:c.429+20T>C	ENSP00000383840.4:n.429+20T>C
ENST00000616135.1:c.258+20T>C	ENSP00000478859.1:n.258+20T>C
NM_015506.2:c.429+20T>C	NP_056321.2:n.429+20T>C
XM_005270724.3:c.234+20T>C	XP_005270781.1:n.234+20T>C
XM_011541204.1:c.258+20T>C	XP_011539506.1:n.258+20T>C
NM_001330540.1:c.258+20T>C	NP_001317469.1:n.258+20T>C
XM_005270724.5:c.234+20T>C	XP_005270781.1:n.234+20T>C
NM_015506.3:c.429+20T>C MANE Select	NP_056321.2:n.429+20T>C
NM_001330540.2:c.258+20T>C	NP_001317469.1:n.258+20T>C