Canonical Allele Identifier: CA516819466

Gene: MED12

Linked Data

• gnomAD v4: X-71132165-A-G
• MyVariant Identifiers: chrX:g.70352015A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.71132165A>G , CM000685.2:g.71132165A>G	GRCh38
NC_000023.10:g.70352015A>G , CM000685.1:g.70352015A>G	GRCh37
NC_000023.9:g.70268740A>G	NCBI36
NG_012808.1:g.18610A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000333646.11:c.4092A>G	ENSP00000333125.8:p.Ala1364=
ENST00000374102.6:c.4212A>G	ENSP00000363215.2:p.Ala1404=
ENST00000685182.1:n.845A>G
ENST00000685655.1:c.165A>G	ENSP00000509298.1:p.Ala55=
ENST00000686169.1:n.589A>G
ENST00000686548.1:c.*4108A>G	ENSP00000509582.1:n.*4108A>G
ENST00000687161.1:n.927A>G
ENST00000687382.1:c.4212A>G	ENSP00000510724.1:p.Ala1404=
ENST00000687701.1:n.841A>G
ENST00000688079.1:n.2207A>G
ENST00000688663.1:c.*1133A>G	ENSP00000509348.1:n.*1133A>G
ENST00000688881.1:n.866A>G
ENST00000688993.1:n.413A>G
ENST00000689768.1:n.2822A>G
ENST00000690145.1:c.4212A>G	ENSP00000508818.1:p.Ala1404=
ENST00000690242.1:c.4212A>G	ENSP00000510090.1:p.Ala1404=
ENST00000690250.1:n.1881A>G
ENST00000690690.1:c.665A>G
ENST00000690828.1:n.4468A>G
ENST00000691113.1:c.2691A>G	ENSP00000509755.1:n.2691A>G
ENST00000691426.1:n.3341A>G
ENST00000691468.1:c.4161A>G	ENSP00000509011.1:p.Ala1387=
ENST00000691909.1:n.932A>G
ENST00000692304.1:c.4212A>G	ENSP00000508427.1:p.Ala1404=
ENST00000692893.1:n.1521A>G
ENST00000692964.1:n.876A>G
ENST00000693050.1:n.719A>G
ENST00000693324.1:c.4176A>G	ENSP00000508643.1:p.Ala1392=
ENST00000693391.1:c.2157A>G	ENSP00000509563.1:p.Ala719=
ENST00000374080.8:c.4212A>G MANE Select	ENSP00000363193.3:p.Ala1404=
ENST00000333646.10:c.3753A>G	ENSP00000333125.7:p.Ala1251=
ENST00000374080.7:c.4212A>G	ENSP00000363193.3:p.Ala1404=
ENST00000374102.5:c.4212A>G	ENSP00000363215.1:p.Ala1404=
NM_005120.2:c.4212A>G	NP_005111.2:p.Ala1404=
XM_005262317.1:c.4212A>G	XP_005262374.1:p.Ala1404=
XM_005262319.1:c.4212A>G	XP_005262376.1:p.Ala1404=
NM_005120.3:c.4212A>G MANE Select	NP_005111.2:p.Ala1404=