Canonical Allele Identifier: CA386888863

Gene: MED13L

Linked Data

• MyVariant Identifiers: chr12:g.116429607G>T (hg19) ; chr12:g.115991802G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115991802G>T , CM000674.2:g.115991802G>T	GRCh38
NC_000012.11:g.116429607G>T , CM000674.1:g.116429607G>T	GRCh37
NC_000012.10:g.114913990G>T	NCBI36
NG_023366.1:g.290385C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.3152C>A MANE Select	ENSP00000281928.3:p.Pro1051Gln
ENST00000548743.2:c.3122C>A	ENSP00000448553.2:p.Pro1041Gln
ENST00000549786.2:c.2580C>A
ENST00000648173.1:n.1947C>A
ENST00000648379.1:n.1520C>A
ENST00000648737.1:n.2916C>A
ENST00000648916.1:n.1163C>A
ENST00000649607.1:c.1336C>A
ENST00000650226.1:c.3152C>A	ENSP00000496981.1:p.Pro1051Gln
ENST00000281928.7:c.3152C>A	ENSP00000281928.3:p.Pro1051Gln
NM_015335.4:c.3152C>A	NP_056150.1:p.Pro1051Gln
XM_011538080.1:c.3152C>A	XP_011536382.1:p.Pro1051Gln
XM_011538081.1:c.3149C>A	XP_011536383.1:p.Pro1050Gln
XM_011538082.1:c.3122C>A	XP_011536384.1:p.Pro1041Gln
XM_011538080.2:c.3152C>A	XP_011536382.1:p.Pro1051Gln
XM_011538081.2:c.3149C>A	XP_011536383.1:p.Pro1050Gln
XM_011538082.2:c.3122C>A	XP_011536384.1:p.Pro1041Gln
XM_017019090.1:c.3149C>A	XP_016874579.1:p.Pro1050Gln
NM_015335.5:c.3152C>A MANE Select	NP_056150.1:p.Pro1051Gln