Canonical Allele Identifier: CA481946534

Gene: MED13L

Linked Data

• dbSNP Id: rs1721105156
• gnomAD v4: 12-115982525-G-A
• MyVariant Identifiers: chr12:g.116420330G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115982525G>A , CM000674.2:g.115982525G>A	GRCh38
NC_000012.11:g.116420330G>A , CM000674.1:g.116420330G>A	GRCh37
NC_000012.10:g.114904713G>A	NCBI36
NG_023366.1:g.299662C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.5034C>T MANE Select	ENSP00000281928.3:p.Val1678=
ENST00000549786.2:c.4462C>T
ENST00000648379.1:n.3402C>T
ENST00000648737.1:n.4798C>T
ENST00000648825.1:n.1774C>T
ENST00000648916.1:n.3045C>T
ENST00000649146.1:n.2277C>T
ENST00000649607.1:c.3218C>T
ENST00000649775.1:c.1523C>T
ENST00000650226.1:c.5034C>T	ENSP00000496981.1:p.Val1678=
ENST00000281928.7:c.5034C>T	ENSP00000281928.3:p.Val1678=
ENST00000549786.1:c.398C>T
ENST00000552340.1:c.66C>T	ENSP00000449876.1:p.Val22=
NM_015335.4:c.5034C>T	NP_056150.1:p.Val1678=
XM_011538080.1:c.5034C>T	XP_011536382.1:p.Val1678=
XM_011538081.1:c.5031C>T	XP_011536383.1:p.Val1677=
XM_011538082.1:c.5004C>T	XP_011536384.1:p.Val1668=
XM_011538080.2:c.5034C>T	XP_011536382.1:p.Val1678=
XM_011538081.2:c.5031C>T	XP_011536383.1:p.Val1677=
XM_011538082.2:c.5004C>T	XP_011536384.1:p.Val1668=
XM_017019090.1:c.5031C>T	XP_016874579.1:p.Val1677=
NM_015335.5:c.5034C>T MANE Select	NP_056150.1:p.Val1678=