Canonical Allele Identifier: CA386881283

Gene: MED13L

Linked Data

• MyVariant Identifiers: chr12:g.116420322A>C (hg19) ; chr12:g.115982517A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115982517A>C , CM000674.2:g.115982517A>C	GRCh38
NC_000012.11:g.116420322A>C , CM000674.1:g.116420322A>C	GRCh37
NC_000012.10:g.114904705A>C	NCBI36
NG_023366.1:g.299670T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000281928.9:c.5042T>G MANE Select	ENSP00000281928.3:p.Met1681Arg
ENST00000549786.2:c.4470T>G
ENST00000648379.1:n.3410T>G
ENST00000648737.1:n.4806T>G
ENST00000648825.1:n.1782T>G
ENST00000648916.1:n.3053T>G
ENST00000649146.1:n.2285T>G
ENST00000649607.1:c.3226T>G
ENST00000649775.1:c.1531T>G
ENST00000650226.1:c.5042T>G	ENSP00000496981.1:p.Met1681Arg
ENST00000281928.7:c.5042T>G	ENSP00000281928.3:p.Met1681Arg
ENST00000549786.1:c.406T>G
ENST00000552340.1:c.74T>G	ENSP00000449876.1:p.Met25Arg
NM_015335.4:c.5042T>G	NP_056150.1:p.Met1681Arg
XM_011538080.1:c.5042T>G	XP_011536382.1:p.Met1681Arg
XM_011538081.1:c.5039T>G	XP_011536383.1:p.Met1680Arg
XM_011538082.1:c.5012T>G	XP_011536384.1:p.Met1671Arg
XM_011538080.2:c.5042T>G	XP_011536382.1:p.Met1681Arg
XM_011538081.2:c.5039T>G	XP_011536383.1:p.Met1680Arg
XM_011538082.2:c.5012T>G	XP_011536384.1:p.Met1671Arg
XM_017019090.1:c.5039T>G	XP_016874579.1:p.Met1680Arg
NM_015335.5:c.5042T>G MANE Select	NP_056150.1:p.Met1681Arg