Canonical Allele Identifier: CA736190984

Gene: MMACHC

Linked Data

• dbSNP Id: rs1244050305
• gnomAD v3: 1-45508686-T-C
• gnomAD v4: 1-45508686-T-C
• MyVariant Identifiers: chr1:g.45974358T>C (hg19) ; chr1:g.45508686T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45508686T>C , CM000663.2:g.45508686T>C	GRCh38
NC_000001.10:g.45974358T>C , CM000663.1:g.45974358T>C	GRCh37
NC_000001.9:g.45746945T>C	NCBI36
NG_013378.1:g.13503T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000401061.9:c.430-110T>C MANE Select	ENSP00000383840.4:n.430-110T>C
ENST00000401061.8:c.430-110T>C	ENSP00000383840.4:n.430-110T>C
ENST00000616135.1:c.259-110T>C	ENSP00000478859.1:n.259-110T>C
NM_015506.2:c.430-110T>C	NP_056321.2:n.430-110T>C
XM_005270724.3:c.235-110T>C	XP_005270781.1:n.235-110T>C
XM_011541204.1:c.259-110T>C	XP_011539506.1:n.259-110T>C
NM_001330540.1:c.259-110T>C	NP_001317469.1:n.259-110T>C
XM_005270724.5:c.235-110T>C	XP_005270781.1:n.235-110T>C
NM_015506.3:c.430-110T>C MANE Select	NP_056321.2:n.430-110T>C
NM_001330540.2:c.259-110T>C	NP_001317469.1:n.259-110T>C