Canonical Allele Identifier: CA244141197

Gene: MED13L

Linked Data

• dbSNP Id: rs749456428
• gnomAD v2: 12-116420250-C-A
• gnomAD v4: 12-115982445-C-A
• MyVariant Identifiers: chr12:g.116420250C>A (hg19) ; chr12:g.115982445C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115982445C>A , CM000674.2:g.115982445C>A	GRCh38
NC_000012.11:g.116420250C>A , CM000674.1:g.116420250C>A	GRCh37
NC_000012.10:g.114904633C>A	NCBI36
NG_023366.1:g.299742G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.5114G>T MANE Select	ENSP00000281928.3:p.Arg1705Leu
ENST00000549786.2:c.4542G>T
ENST00000648379.1:n.3482G>T
ENST00000648737.1:n.4878G>T
ENST00000648825.1:n.1854G>T
ENST00000648916.1:n.3125G>T
ENST00000649146.1:n.2357G>T
ENST00000649607.1:c.3298G>T
ENST00000649775.1:c.1603G>T
ENST00000650226.1:c.5114G>T	ENSP00000496981.1:p.Arg1705Leu
ENST00000281928.7:c.5114G>T	ENSP00000281928.3:p.Arg1705Leu
ENST00000549786.1:c.478G>T
ENST00000552340.1:c.146G>T	ENSP00000449876.1:p.Arg49Leu
NM_015335.4:c.5114G>T	NP_056150.1:p.Arg1705Leu
XM_011538080.1:c.5114G>T	XP_011536382.1:p.Arg1705Leu
XM_011538081.1:c.5111G>T	XP_011536383.1:p.Arg1704Leu
XM_011538082.1:c.5084G>T	XP_011536384.1:p.Arg1695Leu
XM_011538080.2:c.5114G>T	XP_011536382.1:p.Arg1705Leu
XM_011538081.2:c.5111G>T	XP_011536383.1:p.Arg1704Leu
XM_011538082.2:c.5084G>T	XP_011536384.1:p.Arg1695Leu
XM_017019090.1:c.5111G>T	XP_016874579.1:p.Arg1704Leu
NM_015335.5:c.5114G>T MANE Select	NP_056150.1:p.Arg1705Leu