Canonical Allele Identifier: CA386898274

Gene: MED13L

Linked Data

• dbSNP Id: rs1445666010
• gnomAD v2: 12-116450648-A-C
• gnomAD v4: 12-116012843-A-C
• MyVariant Identifiers: chr12:g.116450648A>C (hg19) ; chr12:g.116012843A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.116012843A>C , CM000674.2:g.116012843A>C	GRCh38
NC_000012.11:g.116450648A>C , CM000674.1:g.116450648A>C	GRCh37
NC_000012.10:g.114935031A>C	NCBI36
NG_023366.1:g.269344T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.1234T>G MANE Select	ENSP00000281928.3:p.Trp412Gly
ENST00000548743.2:c.1204T>G	ENSP00000448553.2:p.Trp402Gly
ENST00000549786.2:c.662T>G
ENST00000647567.1:c.1141T>G	ENSP00000497136.1:p.Trp381Gly
ENST00000648737.1:n.998T>G
ENST00000650226.1:c.1234T>G	ENSP00000496981.1:p.Trp412Gly
ENST00000281928.7:c.1234T>G	ENSP00000281928.3:p.Trp412Gly
NM_015335.4:c.1234T>G	NP_056150.1:p.Trp412Gly
XM_011538080.1:c.1234T>G	XP_011536382.1:p.Trp412Gly
XM_011538081.1:c.1234T>G	XP_011536383.1:p.Trp412Gly
XM_011538082.1:c.1204T>G	XP_011536384.1:p.Trp402Gly
XM_011538080.2:c.1234T>G	XP_011536382.1:p.Trp412Gly
XM_011538081.2:c.1234T>G	XP_011536383.1:p.Trp412Gly
XM_011538082.2:c.1204T>G	XP_011536384.1:p.Trp402Gly
XM_017019090.1:c.1234T>G	XP_016874579.1:p.Trp412Gly
NM_015335.5:c.1234T>G MANE Select	NP_056150.1:p.Trp412Gly