Canonical Allele Identifier: CA340133283

Gene: MMACHC

Linked Data

• MyVariant Identifiers: chr1:g.45974555G>T (hg19) ; chr1:g.45508883G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45508883G>T , CM000663.2:g.45508883G>T	GRCh38
NC_000001.10:g.45974555G>T , CM000663.1:g.45974555G>T	GRCh37
NC_000001.9:g.45747142G>T	NCBI36
NG_013378.1:g.13700G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000401061.9:c.517G>T MANE Select	ENSP00000383840.4:p.Asp173Tyr
ENST00000401061.8:c.517G>T	ENSP00000383840.4:p.Asp173Tyr
ENST00000616135.1:c.346G>T	ENSP00000478859.1:p.Asp116Tyr
NM_015506.2:c.517G>T	NP_056321.2:p.Asp173Tyr
XM_005270724.3:c.322G>T	XP_005270781.1:p.Asp108Tyr
XM_011541204.1:c.346G>T	XP_011539506.1:p.Asp116Tyr
NM_001330540.1:c.346G>T	NP_001317469.1:p.Asp116Tyr
XM_005270724.5:c.322G>T	XP_005270781.1:p.Asp108Tyr
NM_015506.3:c.517G>T MANE Select	NP_056321.2:p.Asp173Tyr
NM_001330540.2:c.346G>T	NP_001317469.1:p.Asp116Tyr