Canonical Allele Identifier: CA386876501

Gene: MED13L

Linked Data

• gnomAD v4: 12-115970723-T-C
• MyVariant Identifiers: chr12:g.116408528T>C (hg19) ; chr12:g.115970723T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115970723T>C , CM000674.2:g.115970723T>C	GRCh38
NC_000012.11:g.116408528T>C , CM000674.1:g.116408528T>C	GRCh37
NC_000012.10:g.114892911T>C	NCBI36
NG_023366.1:g.311464A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.5938A>G MANE Select	ENSP00000281928.3:p.Met1980Val
ENST00000548784.2:n.2152A>G
ENST00000648379.1:n.4306A>G
ENST00000648737.1:n.5702A>G
ENST00000648825.1:n.4123A>G
ENST00000648916.1:n.3949A>G
ENST00000649607.1:c.4122A>G
ENST00000649775.1:c.2427A>G
ENST00000650226.1:c.5974A>G	ENSP00000496981.1:p.Met1992Val
ENST00000281928.7:c.5938A>G	ENSP00000281928.3:p.Met1980Val
ENST00000548784.1:n.436A>G
ENST00000552447.1:c.551A>G
NM_015335.4:c.5938A>G	NP_056150.1:p.Met1980Val
XM_011538080.1:c.5974A>G	XP_011536382.1:p.Met1992Val
XM_011538081.1:c.5971A>G	XP_011536383.1:p.Met1991Val
XM_011538082.1:c.5944A>G	XP_011536384.1:p.Met1982Val
XM_011538080.2:c.5974A>G	XP_011536382.1:p.Met1992Val
XM_011538081.2:c.5971A>G	XP_011536383.1:p.Met1991Val
XM_011538082.2:c.5944A>G	XP_011536384.1:p.Met1982Val
XM_017019090.1:c.5935A>G	XP_016874579.1:p.Met1979Val
NM_015335.5:c.5938A>G MANE Select	NP_056150.1:p.Met1980Val