Canonical Allele Identifier: CA827660

Gene: MMACHC

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45507447T>C , CM000663.2:g.45507447T>C	GRCh38
NC_000001.10:g.45973119T>C , CM000663.1:g.45973119T>C	GRCh37
NC_000001.9:g.45745706T>C	NCBI36
NG_013378.1:g.12264T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_015506.3:c.173T>C MANE Select	NP_056321.2:p.Met58Thr
ENST00000401061.9:c.173T>C MANE Select	ENSP00000383840.4:p.Met58Thr
NM_001330540.1:c.2T>C	NP_001317469.1:p.Met1Thr
NM_001330540.2:c.2T>C	NP_001317469.1:p.Met1Thr
NM_015506.2:c.173T>C	NP_056321.2:p.Met58Thr
ENST00000401061.8:c.173T>C	ENSP00000383840.4:p.Met58Thr
ENST00000616135.1:c.2T>C	ENSP00000478859.1:p.Met1Thr
XM_005270724.3:c.82-765T>C	XP_005270781.1:n.82-765T>C
XM_005270724.5:c.82-765T>C	XP_005270781.1:n.82-765T>C
XM_011541204.1:c.2T>C	XP_011539506.1:p.Met1Thr