Canonical Allele Identifier: CA386888461

Gene: MED13L

Linked Data

• MyVariant Identifiers: chr12:g.116429496G>A (hg19) ; chr12:g.115991691G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115991691G>A , CM000674.2:g.115991691G>A	GRCh38
NC_000012.11:g.116429496G>A , CM000674.1:g.116429496G>A	GRCh37
NC_000012.10:g.114913879G>A	NCBI36
NG_023366.1:g.290496C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.3263C>T MANE Select	ENSP00000281928.3:p.Thr1088Ile
ENST00000548743.2:c.3233C>T	ENSP00000448553.2:p.Thr1078Ile
ENST00000549786.2:c.2691C>T
ENST00000648379.1:n.1631C>T
ENST00000648737.1:n.3027C>T
ENST00000648825.1:n.3C>T
ENST00000648916.1:n.1274C>T
ENST00000649607.1:c.1447C>T
ENST00000650226.1:c.3263C>T	ENSP00000496981.1:p.Thr1088Ile
ENST00000281928.7:c.3263C>T	ENSP00000281928.3:p.Thr1088Ile
NM_015335.4:c.3263C>T	NP_056150.1:p.Thr1088Ile
XM_011538080.1:c.3263C>T	XP_011536382.1:p.Thr1088Ile
XM_011538081.1:c.3260C>T	XP_011536383.1:p.Thr1087Ile
XM_011538082.1:c.3233C>T	XP_011536384.1:p.Thr1078Ile
XM_011538080.2:c.3263C>T	XP_011536382.1:p.Thr1088Ile
XM_011538081.2:c.3260C>T	XP_011536383.1:p.Thr1087Ile
XM_011538082.2:c.3233C>T	XP_011536384.1:p.Thr1078Ile
XM_017019090.1:c.3260C>T	XP_016874579.1:p.Thr1087Ile
NM_015335.5:c.3263C>T MANE Select	NP_056150.1:p.Thr1088Ile