Canonical Allele Identifier: CA21829708

Gene: MMACHC

Linked Data

• dbSNP Id: rs1025640008
• gnomAD v4: 1-45508893-C-T
• MyVariant Identifiers: chr1:g.45974565C>T (hg19) ; chr1:g.45508893C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45508893C>T , CM000663.2:g.45508893C>T	GRCh38
NC_000001.10:g.45974565C>T , CM000663.1:g.45974565C>T	GRCh37
NC_000001.9:g.45747152C>T	NCBI36
NG_013378.1:g.13710C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000401061.9:c.527C>T MANE Select	ENSP00000383840.4:p.Pro176Leu
ENST00000401061.8:c.527C>T	ENSP00000383840.4:p.Pro176Leu
ENST00000616135.1:c.356C>T	ENSP00000478859.1:p.Pro119Leu
NM_015506.2:c.527C>T	NP_056321.2:p.Pro176Leu
XM_005270724.3:c.332C>T	XP_005270781.1:p.Pro111Leu
XM_011541204.1:c.356C>T	XP_011539506.1:p.Pro119Leu
NM_001330540.1:c.356C>T	NP_001317469.1:p.Pro119Leu
XM_005270724.5:c.332C>T	XP_005270781.1:p.Pro111Leu
NM_015506.3:c.527C>T MANE Select	NP_056321.2:p.Pro176Leu
NM_001330540.2:c.356C>T	NP_001317469.1:p.Pro119Leu