Canonical Allele Identifier: CA2645390980

Gene: MMACHC

Linked Data

• gnomAD v4: 1-45508645-G-GT

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45508648dup , CM000663.2:g.45508648dup	GRCh38
NC_000001.10:g.45974320dup , CM000663.1:g.45974320dup	GRCh37
NC_000001.9:g.45746907dup	NCBI36
NG_013378.1:g.13465dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000401061.9:c.430-148dup MANE Select	ENSP00000383840.4:n.430-148dup
ENST00000401061.8:c.430-148dup	ENSP00000383840.4:n.430-148dup
ENST00000616135.1:c.259-148dup	ENSP00000478859.1:n.259-148dup
NM_015506.2:c.430-148dup	NP_056321.2:n.430-148dup
XM_005270724.3:c.235-148dup	XP_005270781.1:n.235-148dup
XM_011541204.1:c.259-148dup	XP_011539506.1:n.259-148dup
NM_001330540.1:c.259-148dup	NP_001317469.1:n.259-148dup
XM_005270724.5:c.235-148dup	XP_005270781.1:n.235-148dup
NM_015506.3:c.430-148dup MANE Select	NP_056321.2:n.430-148dup
NM_001330540.2:c.259-148dup	NP_001317469.1:n.259-148dup