Canonical Allele Identifier: CA340133938

Gene: MMACHC

Linked Data

• gnomAD v4: 1-45509036-T-C
• MyVariant Identifiers: chr1:g.45974708T>C (hg19) ; chr1:g.45509036T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45509036T>C , CM000663.2:g.45509036T>C	GRCh38
NC_000001.10:g.45974708T>C , CM000663.1:g.45974708T>C	GRCh37
NC_000001.9:g.45747295T>C	NCBI36
NG_013378.1:g.13853T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000401061.9:c.670T>C MANE Select	ENSP00000383840.4:p.Ser224Pro
ENST00000401061.8:c.670T>C	ENSP00000383840.4:p.Ser224Pro
ENST00000616135.1:c.499T>C	ENSP00000478859.1:p.Ser167Pro
NM_015506.2:c.670T>C	NP_056321.2:p.Ser224Pro
XM_005270724.3:c.475T>C	XP_005270781.1:p.Ser159Pro
XM_011541204.1:c.499T>C	XP_011539506.1:p.Ser167Pro
NM_001330540.1:c.499T>C	NP_001317469.1:p.Ser167Pro
XM_005270724.5:c.475T>C	XP_005270781.1:p.Ser159Pro
NM_015506.3:c.670T>C MANE Select	NP_056321.2:p.Ser224Pro
NM_001330540.2:c.499T>C	NP_001317469.1:p.Ser167Pro