Canonical Allele Identifier: CA386898246

Gene: MED13L

Linked Data

• MyVariant Identifiers: chr12:g.116450638A>G (hg19) ; chr12:g.116012833A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.116012833A>G , CM000674.2:g.116012833A>G	GRCh38
NC_000012.11:g.116450638A>G , CM000674.1:g.116450638A>G	GRCh37
NC_000012.10:g.114935021A>G	NCBI36
NG_023366.1:g.269354T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.1244T>C MANE Select	ENSP00000281928.3:p.Val415Ala
ENST00000548743.2:c.1214T>C	ENSP00000448553.2:p.Val405Ala
ENST00000549786.2:c.672T>C
ENST00000647567.1:c.1151T>C	ENSP00000497136.1:p.Val384Ala
ENST00000648737.1:n.1008T>C
ENST00000650226.1:c.1244T>C	ENSP00000496981.1:p.Val415Ala
ENST00000281928.7:c.1244T>C	ENSP00000281928.3:p.Val415Ala
NM_015335.4:c.1244T>C	NP_056150.1:p.Val415Ala
XM_011538080.1:c.1244T>C	XP_011536382.1:p.Val415Ala
XM_011538081.1:c.1244T>C	XP_011536383.1:p.Val415Ala
XM_011538082.1:c.1214T>C	XP_011536384.1:p.Val405Ala
XM_011538080.2:c.1244T>C	XP_011536382.1:p.Val415Ala
XM_011538081.2:c.1244T>C	XP_011536383.1:p.Val415Ala
XM_011538082.2:c.1214T>C	XP_011536384.1:p.Val405Ala
XM_017019090.1:c.1244T>C	XP_016874579.1:p.Val415Ala
NM_015335.5:c.1244T>C MANE Select	NP_056150.1:p.Val415Ala