Canonical Allele Identifier: CA386889169

Gene: MED13L

Linked Data

• MyVariant Identifiers: chr12:g.116429754G>T (hg19) ; chr12:g.115991949G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115991949G>T , CM000674.2:g.115991949G>T	GRCh38
NC_000012.11:g.116429754G>T , CM000674.1:g.116429754G>T	GRCh37
NC_000012.10:g.114914137G>T	NCBI36
NG_023366.1:g.290238C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.3005C>A MANE Select	ENSP00000281928.3:p.Pro1002His
ENST00000548743.2:c.2975C>A	ENSP00000448553.2:p.Pro992His
ENST00000549786.2:c.2433C>A
ENST00000648173.1:n.1800C>A
ENST00000648379.1:n.1373C>A
ENST00000648737.1:n.2769C>A
ENST00000648916.1:n.1016C>A
ENST00000649607.1:c.1189C>A
ENST00000650226.1:c.3005C>A	ENSP00000496981.1:p.Pro1002His
ENST00000281928.7:c.3005C>A	ENSP00000281928.3:p.Pro1002His
NM_015335.4:c.3005C>A	NP_056150.1:p.Pro1002His
XM_011538080.1:c.3005C>A	XP_011536382.1:p.Pro1002His
XM_011538081.1:c.3002C>A	XP_011536383.1:p.Pro1001His
XM_011538082.1:c.2975C>A	XP_011536384.1:p.Pro992His
XM_011538080.2:c.3005C>A	XP_011536382.1:p.Pro1002His
XM_011538081.2:c.3002C>A	XP_011536383.1:p.Pro1001His
XM_011538082.2:c.2975C>A	XP_011536384.1:p.Pro992His
XM_017019090.1:c.3002C>A	XP_016874579.1:p.Pro1001His
NM_015335.5:c.3005C>A MANE Select	NP_056150.1:p.Pro1002His