Canonical Allele Identifier: CA386888262

Gene: MED13L

Linked Data

• MyVariant Identifiers: chr12:g.116429454G>C (hg19) ; chr12:g.115991649G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115991649G>C , CM000674.2:g.115991649G>C	GRCh38
NC_000012.11:g.116429454G>C , CM000674.1:g.116429454G>C	GRCh37
NC_000012.10:g.114913837G>C	NCBI36
NG_023366.1:g.290538C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.3305C>G MANE Select	ENSP00000281928.3:p.Pro1102Arg
ENST00000549786.2:c.2733C>G
ENST00000648379.1:n.1673C>G
ENST00000648737.1:n.3069C>G
ENST00000648825.1:n.45C>G
ENST00000648916.1:n.1316C>G
ENST00000649607.1:c.1489C>G
ENST00000650226.1:c.3305C>G	ENSP00000496981.1:p.Pro1102Arg
ENST00000281928.7:c.3305C>G	ENSP00000281928.3:p.Pro1102Arg
NM_015335.4:c.3305C>G	NP_056150.1:p.Pro1102Arg
XM_011538080.1:c.3305C>G	XP_011536382.1:p.Pro1102Arg
XM_011538081.1:c.3302C>G	XP_011536383.1:p.Pro1101Arg
XM_011538082.1:c.3275C>G	XP_011536384.1:p.Pro1092Arg
XM_011538080.2:c.3305C>G	XP_011536382.1:p.Pro1102Arg
XM_011538081.2:c.3302C>G	XP_011536383.1:p.Pro1101Arg
XM_011538082.2:c.3275C>G	XP_011536384.1:p.Pro1092Arg
XM_017019090.1:c.3302C>G	XP_016874579.1:p.Pro1101Arg
NM_015335.5:c.3305C>G MANE Select	NP_056150.1:p.Pro1102Arg