Canonical Allele Identifier: CA413525890

Gene: MED12

Linked Data

• dbSNP Id: rs2092319161
• gnomAD v4: X-71132172-A-G
• MyVariant Identifiers: chrX:g.70352022A>G (hg19) ; chrX:g.71132172A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.71132172A>G , CM000685.2:g.71132172A>G	GRCh38
NC_000023.10:g.70352022A>G , CM000685.1:g.70352022A>G	GRCh37
NC_000023.9:g.70268747A>G	NCBI36
NG_012808.1:g.18617A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000333646.11:c.4099A>G	ENSP00000333125.8:p.Met1367Val
ENST00000374102.6:c.4219A>G	ENSP00000363215.2:p.Met1407Val
ENST00000685182.1:n.852A>G
ENST00000685655.1:c.172A>G	ENSP00000509298.1:p.Met58Val
ENST00000686169.1:n.596A>G
ENST00000686548.1:c.*4115A>G	ENSP00000509582.1:n.*4115A>G
ENST00000687161.1:n.934A>G
ENST00000687382.1:c.4219A>G	ENSP00000510724.1:p.Met1407Val
ENST00000687701.1:n.848A>G
ENST00000688079.1:n.2214A>G
ENST00000688663.1:c.*1140A>G	ENSP00000509348.1:n.*1140A>G
ENST00000688881.1:n.873A>G
ENST00000688993.1:n.420A>G
ENST00000689768.1:n.2829A>G
ENST00000690145.1:c.4219A>G	ENSP00000508818.1:p.Met1407Val
ENST00000690242.1:c.4219A>G	ENSP00000510090.1:p.Met1407Val
ENST00000690250.1:n.1888A>G
ENST00000690690.1:c.672A>G
ENST00000690828.1:n.4475A>G
ENST00000691113.1:c.2698A>G	ENSP00000509755.1:n.2698A>G
ENST00000691426.1:n.3348A>G
ENST00000691468.1:c.4168A>G	ENSP00000509011.1:p.Met1390Val
ENST00000691909.1:n.939A>G
ENST00000692304.1:c.4219A>G	ENSP00000508427.1:p.Met1407Val
ENST00000692893.1:n.1528A>G
ENST00000692964.1:n.883A>G
ENST00000693050.1:n.726A>G
ENST00000693324.1:c.4183A>G	ENSP00000508643.1:p.Met1395Val
ENST00000693391.1:c.2164A>G	ENSP00000509563.1:p.Met722Val
ENST00000374080.8:c.4219A>G MANE Select	ENSP00000363193.3:p.Met1407Val
ENST00000333646.10:c.3760A>G	ENSP00000333125.7:p.Met1254Val
ENST00000374080.7:c.4219A>G	ENSP00000363193.3:p.Met1407Val
ENST00000374102.5:c.4219A>G	ENSP00000363215.1:p.Met1407Val
NM_005120.2:c.4219A>G	NP_005111.2:p.Met1407Val
XM_005262317.1:c.4219A>G	XP_005262374.1:p.Met1407Val
XM_005262319.1:c.4219A>G	XP_005262376.1:p.Met1407Val
NM_005120.3:c.4219A>G MANE Select	NP_005111.2:p.Met1407Val