Canonical Allele Identifier: CA386889038

Gene: MED13L

Linked Data

• MyVariant Identifiers: chr12:g.116429692T>A (hg19) ; chr12:g.115991887T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115991887T>A , CM000674.2:g.115991887T>A	GRCh38
NC_000012.11:g.116429692T>A , CM000674.1:g.116429692T>A	GRCh37
NC_000012.10:g.114914075T>A	NCBI36
NG_023366.1:g.290300A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.3067A>T MANE Select	ENSP00000281928.3:p.Thr1023Ser
ENST00000548743.2:c.3037A>T	ENSP00000448553.2:p.Thr1013Ser
ENST00000549786.2:c.2495A>T
ENST00000648173.1:n.1862A>T
ENST00000648379.1:n.1435A>T
ENST00000648737.1:n.2831A>T
ENST00000648916.1:n.1078A>T
ENST00000649607.1:c.1251A>T
ENST00000650226.1:c.3067A>T	ENSP00000496981.1:p.Thr1023Ser
ENST00000281928.7:c.3067A>T	ENSP00000281928.3:p.Thr1023Ser
NM_015335.4:c.3067A>T	NP_056150.1:p.Thr1023Ser
XM_011538080.1:c.3067A>T	XP_011536382.1:p.Thr1023Ser
XM_011538081.1:c.3064A>T	XP_011536383.1:p.Thr1022Ser
XM_011538082.1:c.3037A>T	XP_011536384.1:p.Thr1013Ser
XM_011538080.2:c.3067A>T	XP_011536382.1:p.Thr1023Ser
XM_011538081.2:c.3064A>T	XP_011536383.1:p.Thr1022Ser
XM_011538082.2:c.3037A>T	XP_011536384.1:p.Thr1013Ser
XM_017019090.1:c.3064A>T	XP_016874579.1:p.Thr1022Ser
NM_015335.5:c.3067A>T MANE Select	NP_056150.1:p.Thr1023Ser