Canonical Allele Identifier: CA386881280

Gene: MED13L

Linked Data

• gnomAD v4: 12-115982516-C-A
• MyVariant Identifiers: chr12:g.116420321C>A (hg19) ; chr12:g.115982516C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115982516C>A , CM000674.2:g.115982516C>A	GRCh38
NC_000012.11:g.116420321C>A , CM000674.1:g.116420321C>A	GRCh37
NC_000012.10:g.114904704C>A	NCBI36
NG_023366.1:g.299671G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000281928.9:c.5043G>T MANE Select	ENSP00000281928.3:p.Met1681Ile
ENST00000549786.2:c.4471G>T
ENST00000648379.1:n.3411G>T
ENST00000648737.1:n.4807G>T
ENST00000648825.1:n.1783G>T
ENST00000648916.1:n.3054G>T
ENST00000649146.1:n.2286G>T
ENST00000649607.1:c.3227G>T
ENST00000649775.1:c.1532G>T
ENST00000650226.1:c.5043G>T	ENSP00000496981.1:p.Met1681Ile
ENST00000281928.7:c.5043G>T	ENSP00000281928.3:p.Met1681Ile
ENST00000549786.1:c.407G>T
ENST00000552340.1:c.75G>T	ENSP00000449876.1:p.Met25Ile
NM_015335.4:c.5043G>T	NP_056150.1:p.Met1681Ile
XM_011538080.1:c.5043G>T	XP_011536382.1:p.Met1681Ile
XM_011538081.1:c.5040G>T	XP_011536383.1:p.Met1680Ile
XM_011538082.1:c.5013G>T	XP_011536384.1:p.Met1671Ile
XM_011538080.2:c.5043G>T	XP_011536382.1:p.Met1681Ile
XM_011538081.2:c.5040G>T	XP_011536383.1:p.Met1680Ile
XM_011538082.2:c.5013G>T	XP_011536384.1:p.Met1671Ile
XM_017019090.1:c.5040G>T	XP_016874579.1:p.Met1680Ile
NM_015335.5:c.5043G>T MANE Select	NP_056150.1:p.Met1681Ile