Canonical Allele Identifier: CA340128743

Gene: MMACHC

Linked Data

• MyVariant Identifiers: chr1:g.45966072T>A (hg19) ; chr1:g.45500400T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45500400T>A , CM000663.2:g.45500400T>A	GRCh38
NC_000001.10:g.45966072T>A , CM000663.1:g.45966072T>A	GRCh37
NC_000001.9:g.45738659T>A	NCBI36
NG_013378.1:g.5217T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000401061.9:c.68T>A MANE Select	ENSP00000383840.4:p.Val23Asp
ENST00000401061.8:c.68T>A	ENSP00000383840.4:p.Val23Asp
ENST00000616135.1:c.-104T>A	ENSP00000478859.1:n.-104T>A
NM_015506.2:c.68T>A	NP_056321.2:p.Val23Asp
XM_005270724.3:c.68T>A	XP_005270781.1:p.Val23Asp
XM_011541204.1:c.-155T>A	XP_011539506.1:n.-155T>A
NM_001330540.1:c.-155T>A	NP_001317469.1:n.-155T>A
XM_005270724.5:c.68T>A	XP_005270781.1:p.Val23Asp
NM_015506.3:c.68T>A MANE Select	NP_056321.2:p.Val23Asp
NM_001330540.2:c.-155T>A	NP_001317469.1:n.-155T>A