Canonical Allele Identifier: CA1148468605

Gene: MMACHC

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45508981C= , CM000663.2:g.45508981C=	GRCh38
NC_000001.10:g.45974653C= , CM000663.1:g.45974653C=	GRCh37
NC_000001.9:g.45747240C=	NCBI36
NG_013378.1:g.13798C=

Transcript Alleles

HGVS	Amino-acid Change
NM_015506.3:c.615C= MANE Select	NP_056321.2:p.Tyr205=
ENST00000401061.9:c.615C= MANE Select	ENSP00000383840.4:p.Tyr205=
NM_001330540.1:c.444C=	NP_001317469.1:p.Tyr148=
NM_001330540.2:c.444C=	NP_001317469.1:p.Tyr148=
NM_015506.2:c.615C=	NP_056321.2:p.Tyr205=
ENST00000401061.8:c.615C=	ENSP00000383840.4:p.Tyr205=
ENST00000616135.1:c.444C=	ENSP00000478859.1:p.Tyr148=
XM_005270724.3:c.420C=	XP_005270781.1:p.Tyr140=
XM_005270724.5:c.420C=	XP_005270781.1:p.Tyr140=
XM_011541204.1:c.444C=	XP_011539506.1:p.Tyr148=