Canonical Allele Identifier: CA522810668

Gene: MMACHC

Linked Data

• dbSNP Id: rs1419844645
• gnomAD v2: 1-45974075-G-T
• MyVariant Identifiers: chr1:g.45974075G>T (hg19) ; chr1:g.45508403G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45508403G>T , CM000663.2:g.45508403G>T	GRCh38
NC_000001.10:g.45974075G>T , CM000663.1:g.45974075G>T	GRCh37
NC_000001.9:g.45746662G>T	NCBI36
NG_013378.1:g.13220G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000401061.9:c.429+39G>T MANE Select	ENSP00000383840.4:n.429+39G>T
ENST00000401061.8:c.429+39G>T	ENSP00000383840.4:n.429+39G>T
ENST00000616135.1:c.258+39G>T	ENSP00000478859.1:n.258+39G>T
NM_015506.2:c.429+39G>T	NP_056321.2:n.429+39G>T
XM_005270724.3:c.234+39G>T	XP_005270781.1:n.234+39G>T
XM_011541204.1:c.258+39G>T	XP_011539506.1:n.258+39G>T
NM_001330540.1:c.258+39G>T	NP_001317469.1:n.258+39G>T
XM_005270724.5:c.234+39G>T	XP_005270781.1:n.234+39G>T
NM_015506.3:c.429+39G>T MANE Select	NP_056321.2:n.429+39G>T
NM_001330540.2:c.258+39G>T	NP_001317469.1:n.258+39G>T