Canonical Allele Identifier: CA386883772

Gene: MED13L

Linked Data

• gnomAD v4: 12-115984335-A-C
• MyVariant Identifiers: chr12:g.116422140A>C (hg19) ; chr12:g.115984335A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115984335A>C , CM000674.2:g.115984335A>C	GRCh38
NC_000012.11:g.116422140A>C , CM000674.1:g.116422140A>C	GRCh37
NC_000012.10:g.114906523A>C	NCBI36
NG_023366.1:g.297852T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.4376T>G MANE Select	ENSP00000281928.3:p.Val1459Gly
ENST00000549786.2:c.3804T>G
ENST00000648379.1:n.2744T>G
ENST00000648737.1:n.4140T>G
ENST00000648825.1:n.1116T>G
ENST00000648916.1:n.2387T>G
ENST00000649146.1:n.1106T>G
ENST00000649607.1:c.2560T>G
ENST00000649775.1:c.873T>G
ENST00000650091.1:n.2352T>G
ENST00000650226.1:c.4376T>G	ENSP00000496981.1:p.Val1459Gly
ENST00000281928.7:c.4376T>G	ENSP00000281928.3:p.Val1459Gly
NM_015335.4:c.4376T>G	NP_056150.1:p.Val1459Gly
XM_011538080.1:c.4376T>G	XP_011536382.1:p.Val1459Gly
XM_011538081.1:c.4373T>G	XP_011536383.1:p.Val1458Gly
XM_011538082.1:c.4346T>G	XP_011536384.1:p.Val1449Gly
XM_011538080.2:c.4376T>G	XP_011536382.1:p.Val1459Gly
XM_011538081.2:c.4373T>G	XP_011536383.1:p.Val1458Gly
XM_011538082.2:c.4346T>G	XP_011536384.1:p.Val1449Gly
XM_017019090.1:c.4373T>G	XP_016874579.1:p.Val1458Gly
NM_015335.5:c.4376T>G MANE Select	NP_056150.1:p.Val1459Gly