Canonical Allele Identifier: CA340133493

Gene: MMACHC

Linked Data

• ClinVar Variation Id: 3216102
• ClinVar RCV Id: RCV004511987
• dbSNP Id: rs1173363224
• gnomAD v2: 1-45974607-T-G
• gnomAD v4: 1-45508935-T-G
• MyVariant Identifiers: chr1:g.45974607T>G (hg19) ; chr1:g.45508935T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45508935T>G , CM000663.2:g.45508935T>G	GRCh38
NC_000001.10:g.45974607T>G , CM000663.1:g.45974607T>G	GRCh37
NC_000001.9:g.45747194T>G	NCBI36
NG_013378.1:g.13752T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000401061.9:c.569T>G MANE Select	ENSP00000383840.4:p.Ile190Ser
ENST00000401061.8:c.569T>G	ENSP00000383840.4:p.Ile190Ser
ENST00000616135.1:c.398T>G	ENSP00000478859.1:p.Ile133Ser
NM_015506.2:c.569T>G	NP_056321.2:p.Ile190Ser
XM_005270724.3:c.374T>G	XP_005270781.1:p.Ile125Ser
XM_011541204.1:c.398T>G	XP_011539506.1:p.Ile133Ser
NM_001330540.1:c.398T>G	NP_001317469.1:p.Ile133Ser
XM_005270724.5:c.374T>G	XP_005270781.1:p.Ile125Ser
NM_015506.3:c.569T>G MANE Select	NP_056321.2:p.Ile190Ser
NM_001330540.2:c.398T>G	NP_001317469.1:p.Ile133Ser