Canonical Allele Identifier: CA608055788

Gene: MED13L

Linked Data

• dbSNP Id: rs1234053620
• gnomAD v2: 12-116429810-T-A
• gnomAD v3: 12-115992005-T-A
• gnomAD v4: 12-115992005-T-A
• MyVariant Identifiers: chr12:g.116429810T>A (hg19) ; chr12:g.115992005T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115992005T>A , CM000674.2:g.115992005T>A	GRCh38
NC_000012.11:g.116429810T>A , CM000674.1:g.116429810T>A	GRCh37
NC_000012.10:g.114914193T>A	NCBI36
NG_023366.1:g.290182A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.2997-48A>T MANE Select	ENSP00000281928.3:n.2997-48A>T
ENST00000548743.2:c.2967-48A>T	ENSP00000448553.2:n.2967-48A>T
ENST00000549786.2:c.2425-48A>T
ENST00000648173.1:n.1792-48A>T
ENST00000648379.1:n.1365-48A>T
ENST00000648737.1:n.2761-48A>T
ENST00000648916.1:n.1008-48A>T
ENST00000649607.1:c.1181-48A>T
ENST00000650226.1:c.2997-48A>T	ENSP00000496981.1:n.2997-48A>T
ENST00000281928.7:c.2997-48A>T	ENSP00000281928.3:n.2997-48A>T
NM_015335.4:c.2997-48A>T	NP_056150.1:n.2997-48A>T
XM_011538080.1:c.2997-48A>T	XP_011536382.1:n.2997-48A>T
XM_011538081.1:c.2994-48A>T	XP_011536383.1:n.2994-48A>T
XM_011538082.1:c.2967-48A>T	XP_011536384.1:n.2967-48A>T
XM_011538080.2:c.2997-48A>T	XP_011536382.1:n.2997-48A>T
XM_011538081.2:c.2994-48A>T	XP_011536383.1:n.2994-48A>T
XM_011538082.2:c.2967-48A>T	XP_011536384.1:n.2967-48A>T
XM_017019090.1:c.2994-48A>T	XP_016874579.1:n.2994-48A>T
NM_015335.5:c.2997-48A>T MANE Select	NP_056150.1:n.2997-48A>T