Canonical Allele Identifier: CA386887554

Gene: MED13L

Linked Data

• MyVariant Identifiers: chr12:g.116429239A>G (hg19) ; chr12:g.115991434A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115991434A>G , CM000674.2:g.115991434A>G	GRCh38
NC_000012.11:g.116429239A>G , CM000674.1:g.116429239A>G	GRCh37
NC_000012.10:g.114913622A>G	NCBI36
NG_023366.1:g.290753T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.3520T>C MANE Select	ENSP00000281928.3:p.Tyr1174His
ENST00000549786.2:c.2948T>C
ENST00000648379.1:n.1888T>C
ENST00000648737.1:n.3284T>C
ENST00000648825.1:n.260T>C
ENST00000648916.1:n.1531T>C
ENST00000649607.1:c.1704T>C
ENST00000649775.1:c.17T>C
ENST00000650226.1:c.3520T>C	ENSP00000496981.1:p.Tyr1174His
ENST00000281928.7:c.3520T>C	ENSP00000281928.3:p.Tyr1174His
NM_015335.4:c.3520T>C	NP_056150.1:p.Tyr1174His
XM_011538080.1:c.3520T>C	XP_011536382.1:p.Tyr1174His
XM_011538081.1:c.3517T>C	XP_011536383.1:p.Tyr1173His
XM_011538082.1:c.3490T>C	XP_011536384.1:p.Tyr1164His
XM_011538080.2:c.3520T>C	XP_011536382.1:p.Tyr1174His
XM_011538081.2:c.3517T>C	XP_011536383.1:p.Tyr1173His
XM_011538082.2:c.3490T>C	XP_011536384.1:p.Tyr1164His
XM_017019090.1:c.3517T>C	XP_016874579.1:p.Tyr1173His
NM_015335.5:c.3520T>C MANE Select	NP_056150.1:p.Tyr1174His