Canonical Allele Identifier: CA386872423

Gene: MED13L

Linked Data

• MyVariant Identifiers: chr12:g.116460370A>C (hg19) ; chr12:g.116022565A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.116022565A>C , CM000674.2:g.116022565A>C	GRCh38
NC_000012.11:g.116460370A>C , CM000674.1:g.116460370A>C	GRCh37
NC_000012.10:g.114944753A>C	NCBI36
NG_023366.1:g.259622T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000281928.9:c.516T>G MANE Select	ENSP00000281928.3:p.His172Gln
ENST00000548743.2:c.486T>G	ENSP00000448553.2:p.His162Gln
ENST00000647567.1:c.426T>G	ENSP00000497136.1:p.His142Gln
ENST00000648737.1:n.280T>G
ENST00000650226.1:c.516T>G	ENSP00000496981.1:p.His172Gln
ENST00000281928.7:c.516T>G	ENSP00000281928.3:p.His172Gln
NM_015335.4:c.516T>G	NP_056150.1:p.His172Gln
XM_011538080.1:c.516T>G	XP_011536382.1:p.His172Gln
XM_011538081.1:c.516T>G	XP_011536383.1:p.His172Gln
XM_011538082.1:c.486T>G	XP_011536384.1:p.His162Gln
XM_011538080.2:c.516T>G	XP_011536382.1:p.His172Gln
XM_011538081.2:c.516T>G	XP_011536383.1:p.His172Gln
XM_011538082.2:c.486T>G	XP_011536384.1:p.His162Gln
XM_017019090.1:c.516T>G	XP_016874579.1:p.His172Gln
NM_015335.5:c.516T>G MANE Select	NP_056150.1:p.His172Gln