Canonical Allele Identifier: CA290776524

Gene: MLX

Linked Data

• dbSNP Id: rs533982379
• gnomAD v2: 17-40723398-G-C
• gnomAD v3: 17-42571380-G-C
• gnomAD v4: 17-42571380-G-C
• MyVariant Identifiers: chr17:g.40723398G>C (hg19) ; chr17:g.42571380G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42571380G>C , CM000679.2:g.42571380G>C	GRCh38
NC_000017.10:g.40723398G>C , CM000679.1:g.40723398G>C	GRCh37
NC_000017.9:g.37976924G>C	NCBI36
NG_029442.1:g.9321G>C
NG_031960.1:g.11452C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000435881.7:c.679-167G>C MANE Select	ENSP00000416627.1:n.679-167G>C
ENST00000246912.8:c.841-167G>C	ENSP00000246912.3:n.841-167G>C
ENST00000346833.8:c.589-167G>C	ENSP00000320913.3:n.589-167G>C
ENST00000435881.6:c.679-167G>C	ENSP00000416627.1:n.679-167G>C
ENST00000585403.5:n.886-167G>C
ENST00000588320.1:n.1155-167G>C
ENST00000590050.5:n.845-167G>C
NM_170607.2:c.841-167G>C	NP_733752.1:n.841-167G>C
NM_198204.1:c.679-167G>C	NP_937847.1:n.679-167G>C
NM_198205.1:c.589-167G>C	NP_937848.1:n.589-167G>C
NM_198204.2:c.679-167G>C MANE Select	NP_937847.1:n.679-167G>C
NM_170607.3:c.841-167G>C	NP_733752.1:n.841-167G>C
NM_198205.2:c.589-167G>C	NP_937848.1:n.589-167G>C