Canonical Allele Identifier: CA386881394

Gene: MED13L

Linked Data

• gnomAD v4: 12-115982565-G-C
• MyVariant Identifiers: chr12:g.116420370G>C (hg19) ; chr12:g.115982565G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115982565G>C , CM000674.2:g.115982565G>C	GRCh38
NC_000012.11:g.116420370G>C , CM000674.1:g.116420370G>C	GRCh37
NC_000012.10:g.114904753G>C	NCBI36
NG_023366.1:g.299622C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.4994C>G MANE Select	ENSP00000281928.3:p.Pro1665Arg
ENST00000549786.2:c.4422C>G
ENST00000648379.1:n.3362C>G
ENST00000648737.1:n.4758C>G
ENST00000648825.1:n.1734C>G
ENST00000648916.1:n.3005C>G
ENST00000649146.1:n.2237C>G
ENST00000649607.1:c.3178C>G
ENST00000649775.1:c.1483C>G
ENST00000650226.1:c.4994C>G	ENSP00000496981.1:p.Pro1665Arg
ENST00000281928.7:c.4994C>G	ENSP00000281928.3:p.Pro1665Arg
ENST00000549786.1:c.358C>G
ENST00000552340.1:c.26C>G	ENSP00000449876.1:p.Pro9Arg
NM_015335.4:c.4994C>G	NP_056150.1:p.Pro1665Arg
XM_011538080.1:c.4994C>G	XP_011536382.1:p.Pro1665Arg
XM_011538081.1:c.4991C>G	XP_011536383.1:p.Pro1664Arg
XM_011538082.1:c.4964C>G	XP_011536384.1:p.Pro1655Arg
XM_011538080.2:c.4994C>G	XP_011536382.1:p.Pro1665Arg
XM_011538081.2:c.4991C>G	XP_011536383.1:p.Pro1664Arg
XM_011538082.2:c.4964C>G	XP_011536384.1:p.Pro1655Arg
XM_017019090.1:c.4991C>G	XP_016874579.1:p.Pro1664Arg
NM_015335.5:c.4994C>G MANE Select	NP_056150.1:p.Pro1665Arg