Canonical Allele Identifier: CA827807

Gene: MMACHC

Linked Data

• ClinVar Variation Id: 281007
• ClinVar RCV Id: RCV000267790 ; RCV000723444 ; RCV001275217
• dbSNP Id: rs747527726
• ExAC: 1:45974653 C / G
• gnomAD v2: 1-45974653-C-G
• gnomAD v3: 1-45508981-C-G
• gnomAD v4: 1-45508981-C-G
• MyVariant Identifiers: chr1:g.45974653C>G (hg19) ; chr1:g.45508981C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45508981C>G , CM000663.2:g.45508981C>G	GRCh38
NC_000001.10:g.45974653C>G , CM000663.1:g.45974653C>G	GRCh37
NC_000001.9:g.45747240C>G	NCBI36
NG_013378.1:g.13798C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000401061.9:c.615C>G MANE Select	ENSP00000383840.4:p.Tyr205Ter
ENST00000401061.8:c.615C>G	ENSP00000383840.4:p.Tyr205Ter
ENST00000616135.1:c.444C>G	ENSP00000478859.1:p.Tyr148Ter
NM_015506.2:c.615C>G	NP_056321.2:p.Tyr205Ter
XM_005270724.3:c.420C>G	XP_005270781.1:p.Tyr140Ter
XM_011541204.1:c.444C>G	XP_011539506.1:p.Tyr148Ter
NM_001330540.1:c.444C>G	NP_001317469.1:p.Tyr148Ter
XM_005270724.5:c.420C>G	XP_005270781.1:p.Tyr140Ter
NM_015506.3:c.615C>G MANE Select	NP_056321.2:p.Tyr205Ter
NM_001330540.2:c.444C>G	NP_001317469.1:p.Tyr148Ter