Canonical Allele Identifier: CA21829112

Gene: MMACHC

Linked Data

• ClinVar Variation Id: 1264533
• ClinVar RCV Id: RCV001676778
• dbSNP Id: rs72898320
• gnomAD v2: 1-45973628-T-C
• gnomAD v3: 1-45507956-T-C
• gnomAD v4: 1-45507956-T-C
• MyVariant Identifiers: chr1:g.45973628T>C (hg19) ; chr1:g.45507956T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45507956T>C , CM000663.2:g.45507956T>C	GRCh38
NC_000001.10:g.45973628T>C , CM000663.1:g.45973628T>C	GRCh37
NC_000001.9:g.45746215T>C	NCBI36
NG_013378.1:g.12773T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000401061.9:c.277-256T>C MANE Select	ENSP00000383840.4:n.277-256T>C
ENST00000401061.8:c.277-256T>C	ENSP00000383840.4:n.277-256T>C
ENST00000616135.1:c.106-256T>C	ENSP00000478859.1:n.106-256T>C
NM_015506.2:c.277-256T>C	NP_056321.2:n.277-256T>C
XM_005270724.3:c.82-256T>C	XP_005270781.1:n.82-256T>C
XM_011541204.1:c.106-256T>C	XP_011539506.1:n.106-256T>C
NM_001330540.1:c.106-256T>C	NP_001317469.1:n.106-256T>C
XM_005270724.5:c.82-256T>C	XP_005270781.1:n.82-256T>C
NM_015506.3:c.277-256T>C MANE Select	NP_056321.2:n.277-256T>C
NM_001330540.2:c.106-256T>C	NP_001317469.1:n.106-256T>C