Canonical Allele Identifier: CA386883732

Gene: MED13L

Linked Data

• gnomAD v4: 12-115984316-C-T
• MyVariant Identifiers: chr12:g.116422121C>T (hg19) ; chr12:g.115984316C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115984316C>T , CM000674.2:g.115984316C>T	GRCh38
NC_000012.11:g.116422121C>T , CM000674.1:g.116422121C>T	GRCh37
NC_000012.10:g.114906504C>T	NCBI36
NG_023366.1:g.297871G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.4395G>A MANE Select	ENSP00000281928.3:p.Met1465Ile
ENST00000549786.2:c.3823G>A
ENST00000648379.1:n.2763G>A
ENST00000648737.1:n.4159G>A
ENST00000648825.1:n.1135G>A
ENST00000648916.1:n.2406G>A
ENST00000649146.1:n.1125G>A
ENST00000649607.1:c.2579G>A
ENST00000649775.1:c.892G>A
ENST00000650091.1:n.2371G>A
ENST00000650226.1:c.4395G>A	ENSP00000496981.1:p.Met1465Ile
ENST00000281928.7:c.4395G>A	ENSP00000281928.3:p.Met1465Ile
NM_015335.4:c.4395G>A	NP_056150.1:p.Met1465Ile
XM_011538080.1:c.4395G>A	XP_011536382.1:p.Met1465Ile
XM_011538081.1:c.4392G>A	XP_011536383.1:p.Met1464Ile
XM_011538082.1:c.4365G>A	XP_011536384.1:p.Met1455Ile
XM_011538080.2:c.4395G>A	XP_011536382.1:p.Met1465Ile
XM_011538081.2:c.4392G>A	XP_011536383.1:p.Met1464Ile
XM_011538082.2:c.4365G>A	XP_011536384.1:p.Met1455Ile
XM_017019090.1:c.4392G>A	XP_016874579.1:p.Met1464Ile
NM_015335.5:c.4395G>A MANE Select	NP_056150.1:p.Met1465Ile