Canonical Allele Identifier: CA386881342

Gene: MED13L

Linked Data

• gnomAD v4: 12-115982545-C-G
• MyVariant Identifiers: chr12:g.116420350C>G (hg19) ; chr12:g.115982545C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115982545C>G , CM000674.2:g.115982545C>G	GRCh38
NC_000012.11:g.116420350C>G , CM000674.1:g.116420350C>G	GRCh37
NC_000012.10:g.114904733C>G	NCBI36
NG_023366.1:g.299642G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.5014G>C MANE Select	ENSP00000281928.3:p.Ala1672Pro
ENST00000549786.2:c.4442G>C
ENST00000648379.1:n.3382G>C
ENST00000648737.1:n.4778G>C
ENST00000648825.1:n.1754G>C
ENST00000648916.1:n.3025G>C
ENST00000649146.1:n.2257G>C
ENST00000649607.1:c.3198G>C
ENST00000649775.1:c.1503G>C
ENST00000650226.1:c.5014G>C	ENSP00000496981.1:p.Ala1672Pro
ENST00000281928.7:c.5014G>C	ENSP00000281928.3:p.Ala1672Pro
ENST00000549786.1:c.378G>C
ENST00000552340.1:c.46G>C	ENSP00000449876.1:p.Ala16Pro
NM_015335.4:c.5014G>C	NP_056150.1:p.Ala1672Pro
XM_011538080.1:c.5014G>C	XP_011536382.1:p.Ala1672Pro
XM_011538081.1:c.5011G>C	XP_011536383.1:p.Ala1671Pro
XM_011538082.1:c.4984G>C	XP_011536384.1:p.Ala1662Pro
XM_011538080.2:c.5014G>C	XP_011536382.1:p.Ala1672Pro
XM_011538081.2:c.5011G>C	XP_011536383.1:p.Ala1671Pro
XM_011538082.2:c.4984G>C	XP_011536384.1:p.Ala1662Pro
XM_017019090.1:c.5011G>C	XP_016874579.1:p.Ala1671Pro
NM_015335.5:c.5014G>C MANE Select	NP_056150.1:p.Ala1672Pro