Canonical Allele Identifier: CA340133730

Gene: MMACHC

Linked Data

• MyVariant Identifiers: chr1:g.45974663G>C (hg19) ; chr1:g.45508991G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45508991G>C , CM000663.2:g.45508991G>C	GRCh38
NC_000001.10:g.45974663G>C , CM000663.1:g.45974663G>C	GRCh37
NC_000001.9:g.45747250G>C	NCBI36
NG_013378.1:g.13808G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000401061.9:c.625G>C MANE Select	ENSP00000383840.4:p.Val209Leu
ENST00000401061.8:c.625G>C	ENSP00000383840.4:p.Val209Leu
ENST00000616135.1:c.454G>C	ENSP00000478859.1:p.Val152Leu
NM_015506.2:c.625G>C	NP_056321.2:p.Val209Leu
XM_005270724.3:c.430G>C	XP_005270781.1:p.Val144Leu
XM_011541204.1:c.454G>C	XP_011539506.1:p.Val152Leu
NM_001330540.1:c.454G>C	NP_001317469.1:p.Val152Leu
XM_005270724.5:c.430G>C	XP_005270781.1:p.Val144Leu
NM_015506.3:c.625G>C MANE Select	NP_056321.2:p.Val209Leu
NM_001330540.2:c.454G>C	NP_001317469.1:p.Val152Leu