Canonical Allele Identifier: CA399605254

Gene: MLX

Linked Data

• gnomAD v4: 17-42571581-A-C
• MyVariant Identifiers: chr17:g.40723599A>C (hg19) ; chr17:g.42571581A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42571581A>C , CM000679.2:g.42571581A>C	GRCh38
NC_000017.10:g.40723599A>C , CM000679.1:g.40723599A>C	GRCh37
NC_000017.9:g.37977125A>C	NCBI36
NG_029442.1:g.9522A>C
NG_031960.1:g.11251T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000435881.7:c.713A>C MANE Select	ENSP00000416627.1:p.Gln238Pro
ENST00000246912.8:c.875A>C	ENSP00000246912.3:p.Gln292Pro
ENST00000346833.8:c.623A>C	ENSP00000320913.3:p.Gln208Pro
ENST00000435881.6:c.713A>C	ENSP00000416627.1:p.Gln238Pro
ENST00000585403.5:n.920A>C
ENST00000588320.1:n.1189A>C
ENST00000590050.5:n.879A>C
NM_170607.2:c.875A>C	NP_733752.1:p.Gln292Pro
NM_198204.1:c.713A>C	NP_937847.1:p.Gln238Pro
NM_198205.1:c.623A>C	NP_937848.1:p.Gln208Pro
NM_198204.2:c.713A>C MANE Select	NP_937847.1:p.Gln238Pro
NM_170607.3:c.875A>C	NP_733752.1:p.Gln292Pro
NM_198205.2:c.623A>C	NP_937848.1:p.Gln208Pro