Canonical Allele Identifier: CA386890920

Gene: MED13L

Linked Data

• MyVariant Identifiers: chr12:g.116435030C>T (hg19) ; chr12:g.115997225C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115997225C>T , CM000674.2:g.115997225C>T	GRCh38
NC_000012.11:g.116435030C>T , CM000674.1:g.116435030C>T	GRCh37
NC_000012.10:g.114919413C>T	NCBI36
NG_023366.1:g.284962G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.2575G>A MANE Select	ENSP00000281928.3:p.Ala859Thr
ENST00000548743.2:c.2545G>A	ENSP00000448553.2:p.Ala849Thr
ENST00000549786.2:c.2003G>A
ENST00000647927.1:n.2948G>A
ENST00000648173.1:n.1370G>A
ENST00000648379.1:n.943G>A
ENST00000648737.1:n.2339G>A
ENST00000648916.1:n.586G>A
ENST00000649607.1:c.759G>A
ENST00000650226.1:c.2575G>A	ENSP00000496981.1:p.Ala859Thr
ENST00000281928.7:c.2575G>A	ENSP00000281928.3:p.Ala859Thr
NM_015335.4:c.2575G>A	NP_056150.1:p.Ala859Thr
XM_011538080.1:c.2575G>A	XP_011536382.1:p.Ala859Thr
XM_011538081.1:c.2572G>A	XP_011536383.1:p.Ala858Thr
XM_011538082.1:c.2545G>A	XP_011536384.1:p.Ala849Thr
XM_011538080.2:c.2575G>A	XP_011536382.1:p.Ala859Thr
XM_011538081.2:c.2572G>A	XP_011536383.1:p.Ala858Thr
XM_011538082.2:c.2545G>A	XP_011536384.1:p.Ala849Thr
XM_017019090.1:c.2572G>A	XP_016874579.1:p.Ala858Thr
NM_015335.5:c.2575G>A MANE Select	NP_056150.1:p.Ala859Thr