Canonical Allele Identifier: CA244150146

Gene: MED13L

Linked Data

• dbSNP Id: rs199988379
• gnomAD v3: 12-115991720-A-T
• gnomAD v4: 12-115991720-A-T
• MyVariant Identifiers: chr12:g.116429525A>T (hg19) ; chr12:g.115991720A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115991720A>T , CM000674.2:g.115991720A>T	GRCh38
NC_000012.11:g.116429525A>T , CM000674.1:g.116429525A>T	GRCh37
NC_000012.10:g.114913908A>T	NCBI36
NG_023366.1:g.290467T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.3234T>A MANE Select	ENSP00000281928.3:p.Asp1078Glu
ENST00000548743.2:c.3204T>A	ENSP00000448553.2:p.Asp1068Glu
ENST00000549786.2:c.2662T>A
ENST00000648173.1:n.2029T>A
ENST00000648379.1:n.1602T>A
ENST00000648737.1:n.2998T>A
ENST00000648916.1:n.1245T>A
ENST00000649607.1:c.1418T>A
ENST00000650226.1:c.3234T>A	ENSP00000496981.1:p.Asp1078Glu
ENST00000281928.7:c.3234T>A	ENSP00000281928.3:p.Asp1078Glu
NM_015335.4:c.3234T>A	NP_056150.1:p.Asp1078Glu
XM_011538080.1:c.3234T>A	XP_011536382.1:p.Asp1078Glu
XM_011538081.1:c.3231T>A	XP_011536383.1:p.Asp1077Glu
XM_011538082.1:c.3204T>A	XP_011536384.1:p.Asp1068Glu
XM_011538080.2:c.3234T>A	XP_011536382.1:p.Asp1078Glu
XM_011538081.2:c.3231T>A	XP_011536383.1:p.Asp1077Glu
XM_011538082.2:c.3204T>A	XP_011536384.1:p.Asp1068Glu
XM_017019090.1:c.3231T>A	XP_016874579.1:p.Asp1077Glu
NM_015335.5:c.3234T>A MANE Select	NP_056150.1:p.Asp1078Glu