Canonical Allele Identifier: CA386888055

Gene: MED13L

Linked Data

• MyVariant Identifiers: chr12:g.116429410C>A (hg19) ; chr12:g.115991605C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115991605C>A , CM000674.2:g.115991605C>A	GRCh38
NC_000012.11:g.116429410C>A , CM000674.1:g.116429410C>A	GRCh37
NC_000012.10:g.114913793C>A	NCBI36
NG_023366.1:g.290582G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.3349G>T MANE Select	ENSP00000281928.3:p.Asp1117Tyr
ENST00000549786.2:c.2777G>T
ENST00000648379.1:n.1717G>T
ENST00000648737.1:n.3113G>T
ENST00000648825.1:n.89G>T
ENST00000648916.1:n.1360G>T
ENST00000649607.1:c.1533G>T
ENST00000650226.1:c.3349G>T	ENSP00000496981.1:p.Asp1117Tyr
ENST00000281928.7:c.3349G>T	ENSP00000281928.3:p.Asp1117Tyr
NM_015335.4:c.3349G>T	NP_056150.1:p.Asp1117Tyr
XM_011538080.1:c.3349G>T	XP_011536382.1:p.Asp1117Tyr
XM_011538081.1:c.3346G>T	XP_011536383.1:p.Asp1116Tyr
XM_011538082.1:c.3319G>T	XP_011536384.1:p.Asp1107Tyr
XM_011538080.2:c.3349G>T	XP_011536382.1:p.Asp1117Tyr
XM_011538081.2:c.3346G>T	XP_011536383.1:p.Asp1116Tyr
XM_011538082.2:c.3319G>T	XP_011536384.1:p.Asp1107Tyr
XM_017019090.1:c.3346G>T	XP_016874579.1:p.Asp1116Tyr
NM_015335.5:c.3349G>T MANE Select	NP_056150.1:p.Asp1117Tyr