Canonical Allele Identifier: CA21829182

Gene: MMACHC

Linked Data

• dbSNP Id: rs951684915
• gnomAD v3: 1-45508031-CAT-C
• gnomAD v4: 1-45508031-CAT-C
• MyVariant Identifiers: chr1:g.45973704_45973705del (hg19) ; chr1:g.45508032_45508033del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45508032_45508033del , CM000663.2:g.45508032_45508033del	GRCh38
NC_000001.10:g.45973704_45973705del , CM000663.1:g.45973704_45973705del	GRCh37
NC_000001.9:g.45746291_45746292del	NCBI36
NG_013378.1:g.12849_12850del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000401061.9:c.277-180_277-179del MANE Select	ENSP00000383840.4:n.277-180_277-179del
ENST00000401061.8:c.277-180_277-179del	ENSP00000383840.4:n.277-180_277-179del
ENST00000616135.1:c.106-180_106-179del	ENSP00000478859.1:n.106-180_106-179del
NM_015506.2:c.277-180_277-179del	NP_056321.2:n.277-180_277-179del
XM_005270724.3:c.82-180_82-179del	XP_005270781.1:n.82-180_82-179del
XM_011541204.1:c.106-180_106-179del	XP_011539506.1:n.106-180_106-179del
NM_001330540.1:c.106-180_106-179del	NP_001317469.1:n.106-180_106-179del
XM_005270724.5:c.82-180_82-179del	XP_005270781.1:n.82-180_82-179del
NM_015506.3:c.277-180_277-179del MANE Select	NP_056321.2:n.277-180_277-179del
NM_001330540.2:c.106-180_106-179del	NP_001317469.1:n.106-180_106-179del