Canonical Allele Identifier: CA386888155

Gene: MED13L

Linked Data

• MyVariant Identifiers: chr12:g.116429431A>C (hg19) ; chr12:g.115991626A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115991626A>C , CM000674.2:g.115991626A>C	GRCh38
NC_000012.11:g.116429431A>C , CM000674.1:g.116429431A>C	GRCh37
NC_000012.10:g.114913814A>C	NCBI36
NG_023366.1:g.290561T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.3328T>G MANE Select	ENSP00000281928.3:p.Tyr1110Asp
ENST00000549786.2:c.2756T>G
ENST00000648379.1:n.1696T>G
ENST00000648737.1:n.3092T>G
ENST00000648825.1:n.68T>G
ENST00000648916.1:n.1339T>G
ENST00000649607.1:c.1512T>G
ENST00000650226.1:c.3328T>G	ENSP00000496981.1:p.Tyr1110Asp
ENST00000281928.7:c.3328T>G	ENSP00000281928.3:p.Tyr1110Asp
NM_015335.4:c.3328T>G	NP_056150.1:p.Tyr1110Asp
XM_011538080.1:c.3328T>G	XP_011536382.1:p.Tyr1110Asp
XM_011538081.1:c.3325T>G	XP_011536383.1:p.Tyr1109Asp
XM_011538082.1:c.3298T>G	XP_011536384.1:p.Tyr1100Asp
XM_011538080.2:c.3328T>G	XP_011536382.1:p.Tyr1110Asp
XM_011538081.2:c.3325T>G	XP_011536383.1:p.Tyr1109Asp
XM_011538082.2:c.3298T>G	XP_011536384.1:p.Tyr1100Asp
XM_017019090.1:c.3325T>G	XP_016874579.1:p.Tyr1109Asp
NM_015335.5:c.3328T>G MANE Select	NP_056150.1:p.Tyr1110Asp