Canonical Allele Identifier: CA16607106

Gene: MED13L

Linked Data

• ClinVar Variation Id: 391487
• ClinVar RCV Id: RCV000429083
• dbSNP Id: rs1057524103
• MyVariant Identifiers: chr12:g.116435000G>T (hg19) ; chr12:g.115997195G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115997195G>T , CM000674.2:g.115997195G>T	GRCh38
NC_000012.11:g.116435000G>T , CM000674.1:g.116435000G>T	GRCh37
NC_000012.10:g.114919383G>T	NCBI36
NG_023366.1:g.284992C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000281928.9:c.2605C>A MANE Select	ENSP00000281928.3:p.Pro869Thr
ENST00000548743.2:c.2575C>A	ENSP00000448553.2:p.Pro859Thr
ENST00000549786.2:c.2033C>A
ENST00000647927.1:n.2978C>A
ENST00000648173.1:n.1400C>A
ENST00000648379.1:n.973C>A
ENST00000648737.1:n.2369C>A
ENST00000648916.1:n.616C>A
ENST00000649607.1:c.789C>A
ENST00000650226.1:c.2605C>A	ENSP00000496981.1:p.Pro869Thr
ENST00000281928.7:c.2605C>A	ENSP00000281928.3:p.Pro869Thr
NM_015335.4:c.2605C>A	NP_056150.1:p.Pro869Thr
XM_011538080.1:c.2605C>A	XP_011536382.1:p.Pro869Thr
XM_011538081.1:c.2602C>A	XP_011536383.1:p.Pro868Thr
XM_011538082.1:c.2575C>A	XP_011536384.1:p.Pro859Thr
XM_011538080.2:c.2605C>A	XP_011536382.1:p.Pro869Thr
XM_011538081.2:c.2602C>A	XP_011536383.1:p.Pro868Thr
XM_011538082.2:c.2575C>A	XP_011536384.1:p.Pro859Thr
XM_017019090.1:c.2602C>A	XP_016874579.1:p.Pro868Thr
NM_015335.5:c.2605C>A MANE Select	NP_056150.1:p.Pro869Thr