Canonical Allele Identifier: CA340133961

Gene: MMACHC

Linked Data

• dbSNP Id: rs1643685020
• gnomAD v4: 1-45509043-C-T
• MyVariant Identifiers: chr1:g.45974715C>T (hg19) ; chr1:g.45509043C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45509043C>T , CM000663.2:g.45509043C>T	GRCh38
NC_000001.10:g.45974715C>T , CM000663.1:g.45974715C>T	GRCh37
NC_000001.9:g.45747302C>T	NCBI36
NG_013378.1:g.13860C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000401061.9:c.677C>T MANE Select	ENSP00000383840.4:p.Pro226Leu
ENST00000401061.8:c.677C>T	ENSP00000383840.4:p.Pro226Leu
ENST00000616135.1:c.506C>T	ENSP00000478859.1:p.Pro169Leu
NM_015506.2:c.677C>T	NP_056321.2:p.Pro226Leu
XM_005270724.3:c.482C>T	XP_005270781.1:p.Pro161Leu
XM_011541204.1:c.506C>T	XP_011539506.1:p.Pro169Leu
NM_001330540.1:c.506C>T	NP_001317469.1:p.Pro169Leu
XM_005270724.5:c.482C>T	XP_005270781.1:p.Pro161Leu
NM_015506.3:c.677C>T MANE Select	NP_056321.2:p.Pro226Leu
NM_001330540.2:c.506C>T	NP_001317469.1:p.Pro169Leu