Canonical Allele Identifier: CA2645390716

Gene: MMACHC

Linked Data

• gnomAD v4: 1-45500315-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45500315C>T , CM000663.2:g.45500315C>T	GRCh38
NC_000001.10:g.45965987C>T , CM000663.1:g.45965987C>T	GRCh37
NC_000001.9:g.45738574C>T	NCBI36
NG_013378.1:g.5132C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000401061.9:c.-18C>T MANE Select	ENSP00000383840.4:n.-18C>T
ENST00000401061.8:c.-18C>T	ENSP00000383840.4:n.-18C>T
NM_015506.2:c.-18C>T	NP_056321.2:n.-18C>T
NM_001330540.1:c.-240C>T	NP_001317469.1:n.-240C>T
XM_005270724.5:c.-18C>T	XP_005270781.1:n.-18C>T
NM_015506.3:c.-18C>T MANE Select	NP_056321.2:n.-18C>T
NM_001330540.2:c.-240C>T	NP_001317469.1:n.-240C>T