Canonical Allele Identifier: CA386872174

Gene: MED13L

Linked Data

• dbSNP Id: rs1346717465
• gnomAD v3: 12-116022486-T-A
• gnomAD v4: 12-116022486-T-A
• MyVariant Identifiers: chr12:g.116460291T>A (hg19) ; chr12:g.116022486T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.116022486T>A , CM000674.2:g.116022486T>A	GRCh38
NC_000012.11:g.116460291T>A , CM000674.1:g.116460291T>A	GRCh37
NC_000012.10:g.114944674T>A	NCBI36
NG_023366.1:g.259701A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000281928.9:c.595A>T MANE Select	ENSP00000281928.3:p.Met199Leu
ENST00000548743.2:c.565A>T	ENSP00000448553.2:p.Met189Leu
ENST00000549786.2:c.23A>T
ENST00000647567.1:c.505A>T	ENSP00000497136.1:p.Met169Leu
ENST00000648737.1:n.359A>T
ENST00000650226.1:c.595A>T	ENSP00000496981.1:p.Met199Leu
ENST00000281928.7:c.595A>T	ENSP00000281928.3:p.Met199Leu
NM_015335.4:c.595A>T	NP_056150.1:p.Met199Leu
XM_011538080.1:c.595A>T	XP_011536382.1:p.Met199Leu
XM_011538081.1:c.595A>T	XP_011536383.1:p.Met199Leu
XM_011538082.1:c.565A>T	XP_011536384.1:p.Met189Leu
XM_011538080.2:c.595A>T	XP_011536382.1:p.Met199Leu
XM_011538081.2:c.595A>T	XP_011536383.1:p.Met199Leu
XM_011538082.2:c.565A>T	XP_011536384.1:p.Met189Leu
XM_017019090.1:c.595A>T	XP_016874579.1:p.Met199Leu
NM_015335.5:c.595A>T MANE Select	NP_056150.1:p.Met199Leu