Canonical Allele Identifier: CA21829811

Gene: MMACHC

Linked Data

• dbSNP Id: rs867614301
• gnomAD v3: 1-45508985-G-C
• gnomAD v4: 1-45508985-G-C
• MyVariant Identifiers: chr1:g.45974657G>C (hg19) ; chr1:g.45508985G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45508985G>C , CM000663.2:g.45508985G>C	GRCh38
NC_000001.10:g.45974657G>C , CM000663.1:g.45974657G>C	GRCh37
NC_000001.9:g.45747244G>C	NCBI36
NG_013378.1:g.13802G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000401061.9:c.619G>C MANE Select	ENSP00000383840.4:p.Asp207His
ENST00000401061.8:c.619G>C	ENSP00000383840.4:p.Asp207His
ENST00000616135.1:c.448G>C	ENSP00000478859.1:p.Asp150His
NM_015506.2:c.619G>C	NP_056321.2:p.Asp207His
XM_005270724.3:c.424G>C	XP_005270781.1:p.Asp142His
XM_011541204.1:c.448G>C	XP_011539506.1:p.Asp150His
NM_001330540.1:c.448G>C	NP_001317469.1:p.Asp150His
XM_005270724.5:c.424G>C	XP_005270781.1:p.Asp142His
NM_015506.3:c.619G>C MANE Select	NP_056321.2:p.Asp207His
NM_001330540.2:c.448G>C	NP_001317469.1:p.Asp150His