Canonical Allele Identifier: CA481946040

Gene: MED13L

Linked Data

• gnomAD v4: 12-115982441-G-A
• MyVariant Identifiers: chr12:g.116420246G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115982441G>A , CM000674.2:g.115982441G>A	GRCh38
NC_000012.11:g.116420246G>A , CM000674.1:g.116420246G>A	GRCh37
NC_000012.10:g.114904629G>A	NCBI36
NG_023366.1:g.299746C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.5118C>T MANE Select	ENSP00000281928.3:p.Cys1706=
ENST00000549786.2:c.4546C>T
ENST00000648379.1:n.3486C>T
ENST00000648737.1:n.4882C>T
ENST00000648825.1:n.1858C>T
ENST00000648916.1:n.3129C>T
ENST00000649146.1:n.2361C>T
ENST00000649607.1:c.3302C>T
ENST00000649775.1:c.1607C>T
ENST00000650226.1:c.5118C>T	ENSP00000496981.1:p.Cys1706=
ENST00000281928.7:c.5118C>T	ENSP00000281928.3:p.Cys1706=
ENST00000549786.1:c.482C>T
ENST00000552340.1:c.150C>T	ENSP00000449876.1:p.Cys50=
NM_015335.4:c.5118C>T	NP_056150.1:p.Cys1706=
XM_011538080.1:c.5118C>T	XP_011536382.1:p.Cys1706=
XM_011538081.1:c.5115C>T	XP_011536383.1:p.Cys1705=
XM_011538082.1:c.5088C>T	XP_011536384.1:p.Cys1696=
XM_011538080.2:c.5118C>T	XP_011536382.1:p.Cys1706=
XM_011538081.2:c.5115C>T	XP_011536383.1:p.Cys1705=
XM_011538082.2:c.5088C>T	XP_011536384.1:p.Cys1696=
XM_017019090.1:c.5115C>T	XP_016874579.1:p.Cys1705=
NM_015335.5:c.5118C>T MANE Select	NP_056150.1:p.Cys1706=