Canonical Allele Identifier: CA684031601

Gene: MED13L

Linked Data

• dbSNP Id: rs1268696800
• gnomAD v4: 12-116003251-C-G
• MyVariant Identifiers: chr12:g.116441056C>G (hg19) ; chr12:g.116003251C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.116003251C>G , CM000674.2:g.116003251C>G	GRCh38
NC_000012.11:g.116441056C>G , CM000674.1:g.116441056C>G	GRCh37
NC_000012.10:g.114925439C>G	NCBI36
NG_023366.1:g.278936G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.2470-149G>C MANE Select	ENSP00000281928.3:n.2470-149G>C
ENST00000548743.2:c.2440-149G>C	ENSP00000448553.2:n.2440-149G>C
ENST00000549786.2:c.1898-149G>C
ENST00000648173.1:n.1265-149G>C
ENST00000648379.1:n.689G>C
ENST00000648737.1:n.2234-149G>C
ENST00000648916.1:n.481-149G>C
ENST00000649607.1:c.657-149G>C
ENST00000650226.1:c.2470-149G>C	ENSP00000496981.1:n.2470-149G>C
ENST00000281928.7:c.2470-149G>C	ENSP00000281928.3:n.2470-149G>C
NM_015335.4:c.2470-149G>C	NP_056150.1:n.2470-149G>C
XM_011538080.1:c.2470-149G>C	XP_011536382.1:n.2470-149G>C
XM_011538081.1:c.2470-149G>C	XP_011536383.1:n.2470-149G>C
XM_011538082.1:c.2440-149G>C	XP_011536384.1:n.2440-149G>C
XM_011538080.2:c.2470-149G>C	XP_011536382.1:n.2470-149G>C
XM_011538081.2:c.2470-149G>C	XP_011536383.1:n.2470-149G>C
XM_011538082.2:c.2440-149G>C	XP_011536384.1:n.2440-149G>C
XM_017019090.1:c.2470-149G>C	XP_016874579.1:n.2470-149G>C
NM_015335.5:c.2470-149G>C MANE Select	NP_056150.1:n.2470-149G>C