Canonical Allele Identifier: CA417881721

Gene: MMACHC

Linked Data

• gnomAD v4: 1-45509038-C-T
• MyVariant Identifiers: chr1:g.45974710C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45509038C>T , CM000663.2:g.45509038C>T	GRCh38
NC_000001.10:g.45974710C>T , CM000663.1:g.45974710C>T	GRCh37
NC_000001.9:g.45747297C>T	NCBI36
NG_013378.1:g.13855C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000401061.9:c.672C>T MANE Select	ENSP00000383840.4:p.Ser224=
ENST00000401061.8:c.672C>T	ENSP00000383840.4:p.Ser224=
ENST00000616135.1:c.501C>T	ENSP00000478859.1:p.Ser167=
NM_015506.2:c.672C>T	NP_056321.2:p.Ser224=
XM_005270724.3:c.477C>T	XP_005270781.1:p.Ser159=
XM_011541204.1:c.501C>T	XP_011539506.1:p.Ser167=
NM_001330540.1:c.501C>T	NP_001317469.1:p.Ser167=
XM_005270724.5:c.477C>T	XP_005270781.1:p.Ser159=
NM_015506.3:c.672C>T MANE Select	NP_056321.2:p.Ser224=
NM_001330540.2:c.501C>T	NP_001317469.1:p.Ser167=