Canonical Allele Identifier: CA386887733

Gene: MED13L

Linked Data

• MyVariant Identifiers: chr12:g.116429317A>C (hg19) ; chr12:g.115991512A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115991512A>C , CM000674.2:g.115991512A>C	GRCh38
NC_000012.11:g.116429317A>C , CM000674.1:g.116429317A>C	GRCh37
NC_000012.10:g.114913700A>C	NCBI36
NG_023366.1:g.290675T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.3442T>G MANE Select	ENSP00000281928.3:p.Tyr1148Asp
ENST00000549786.2:c.2870T>G
ENST00000648379.1:n.1810T>G
ENST00000648737.1:n.3206T>G
ENST00000648825.1:n.182T>G
ENST00000648916.1:n.1453T>G
ENST00000649607.1:c.1626T>G
ENST00000650226.1:c.3442T>G	ENSP00000496981.1:p.Tyr1148Asp
ENST00000281928.7:c.3442T>G	ENSP00000281928.3:p.Tyr1148Asp
NM_015335.4:c.3442T>G	NP_056150.1:p.Tyr1148Asp
XM_011538080.1:c.3442T>G	XP_011536382.1:p.Tyr1148Asp
XM_011538081.1:c.3439T>G	XP_011536383.1:p.Tyr1147Asp
XM_011538082.1:c.3412T>G	XP_011536384.1:p.Tyr1138Asp
XM_011538080.2:c.3442T>G	XP_011536382.1:p.Tyr1148Asp
XM_011538081.2:c.3439T>G	XP_011536383.1:p.Tyr1147Asp
XM_011538082.2:c.3412T>G	XP_011536384.1:p.Tyr1138Asp
XM_017019090.1:c.3439T>G	XP_016874579.1:p.Tyr1147Asp
NM_015335.5:c.3442T>G MANE Select	NP_056150.1:p.Tyr1148Asp