Canonical Allele Identifier: CA2473783501
Gene: MMACHC HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.45508535G= , CM000663.2:g.45508535G= GRCh38
NC_000001.10:g.45974207G= , CM000663.1:g.45974207G= GRCh37
NC_000001.9:g.45746794G= NCBI36
NG_013378.1:g.13352G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000401061.9:c.429+171G= MANE Select ENSP00000383840.4:n.429+171G=
ENST00000401061.8:c.429+171G= ENSP00000383840.4:n.429+171G=
ENST00000616135.1:c.258+171G= ENSP00000478859.1:n.258+171G=
NM_015506.2:c.429+171G= NP_056321.2:n.429+171G=
XM_005270724.3:c.234+171G= XP_005270781.1:n.234+171G=
XM_011541204.1:c.258+171G= XP_011539506.1:n.258+171G=
NM_001330540.1:c.258+171G= NP_001317469.1:n.258+171G=
XM_005270724.5:c.234+171G= XP_005270781.1:n.234+171G=
NM_015506.3:c.429+171G= MANE Select NP_056321.2:n.429+171G=
NM_001330540.2:c.258+171G= NP_001317469.1:n.258+171G=
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