Canonical Allele Identifier: CA386888352

Gene: MED13L

Linked Data

• dbSNP Id: rs1592924079
• MyVariant Identifiers: chr12:g.116429471C>G (hg19) ; chr12:g.115991666C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115991666C>G , CM000674.2:g.115991666C>G	GRCh38
NC_000012.11:g.116429471C>G , CM000674.1:g.116429471C>G	GRCh37
NC_000012.10:g.114913854C>G	NCBI36
NG_023366.1:g.290521G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.3288G>C MANE Select	ENSP00000281928.3:p.Glu1096Asp
ENST00000549786.2:c.2716G>C
ENST00000648379.1:n.1656G>C
ENST00000648737.1:n.3052G>C
ENST00000648825.1:n.28G>C
ENST00000648916.1:n.1299G>C
ENST00000649607.1:c.1472G>C
ENST00000650226.1:c.3288G>C	ENSP00000496981.1:p.Glu1096Asp
ENST00000281928.7:c.3288G>C	ENSP00000281928.3:p.Glu1096Asp
NM_015335.4:c.3288G>C	NP_056150.1:p.Glu1096Asp
XM_011538080.1:c.3288G>C	XP_011536382.1:p.Glu1096Asp
XM_011538081.1:c.3285G>C	XP_011536383.1:p.Glu1095Asp
XM_011538082.1:c.3258G>C	XP_011536384.1:p.Glu1086Asp
XM_011538080.2:c.3288G>C	XP_011536382.1:p.Glu1096Asp
XM_011538081.2:c.3285G>C	XP_011536383.1:p.Glu1095Asp
XM_011538082.2:c.3258G>C	XP_011536384.1:p.Glu1086Asp
XM_017019090.1:c.3285G>C	XP_016874579.1:p.Glu1095Asp
NM_015335.5:c.3288G>C MANE Select	NP_056150.1:p.Glu1096Asp