Canonical Allele Identifier: CA386889070

Gene: MED13L

Linked Data

• MyVariant Identifiers: chr12:g.116429707T>A (hg19) ; chr12:g.115991902T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.115991902T>A , CM000674.2:g.115991902T>A	GRCh38
NC_000012.11:g.116429707T>A , CM000674.1:g.116429707T>A	GRCh37
NC_000012.10:g.114914090T>A	NCBI36
NG_023366.1:g.290285A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.3052A>T MANE Select	ENSP00000281928.3:p.Met1018Leu
ENST00000548743.2:c.3022A>T	ENSP00000448553.2:p.Met1008Leu
ENST00000549786.2:c.2480A>T
ENST00000648173.1:n.1847A>T
ENST00000648379.1:n.1420A>T
ENST00000648737.1:n.2816A>T
ENST00000648916.1:n.1063A>T
ENST00000649607.1:c.1236A>T
ENST00000650226.1:c.3052A>T	ENSP00000496981.1:p.Met1018Leu
ENST00000281928.7:c.3052A>T	ENSP00000281928.3:p.Met1018Leu
NM_015335.4:c.3052A>T	NP_056150.1:p.Met1018Leu
XM_011538080.1:c.3052A>T	XP_011536382.1:p.Met1018Leu
XM_011538081.1:c.3049A>T	XP_011536383.1:p.Met1017Leu
XM_011538082.1:c.3022A>T	XP_011536384.1:p.Met1008Leu
XM_011538080.2:c.3052A>T	XP_011536382.1:p.Met1018Leu
XM_011538081.2:c.3049A>T	XP_011536383.1:p.Met1017Leu
XM_011538082.2:c.3022A>T	XP_011536384.1:p.Met1008Leu
XM_017019090.1:c.3049A>T	XP_016874579.1:p.Met1017Leu
NM_015335.5:c.3052A>T MANE Select	NP_056150.1:p.Met1018Leu