Canonical Allele Identifier: CA392623456

Gene: ADAM10

Linked Data

• dbSNP Id: rs1243751725
• gnomAD v2: 15-58971391-G-A
• MyVariant Identifiers: chr15:g.58971391G>A (hg19) ; chr15:g.58679192G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.58679192G>A , CM000677.2:g.58679192G>A	GRCh38
NC_000015.9:g.58971391G>A , CM000677.1:g.58971391G>A	GRCh37
NC_000015.8:g.56758683G>A	NCBI36
NG_033876.1:g.75787C>T
NG_033876.2:g.75516C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000260408.8:c.416C>T MANE Select	ENSP00000260408.3:p.Pro139Leu
ENST00000260408.7:c.416C>T	ENSP00000260408.3:p.Pro139Leu
ENST00000396136.6:c.91C>T
ENST00000402627.5:c.56-38362C>T	ENSP00000386056.1:n.56-38362C>T
ENST00000439637.5:c.325+3004C>T	ENSP00000391930.1:n.325+3004C>T
ENST00000497846.5:n.533C>T
ENST00000558004.1:c.332-13995C>T	ENSP00000452704.1:n.332-13995C>T
ENST00000558733.5:n.652C>T
ENST00000559053.1:c.56-38362C>T	ENSP00000453952.1:n.56-38362C>T
ENST00000560608.5:n.554C>T
ENST00000561288.1:c.55+70288C>T	ENSP00000452639.1:n.55+70288C>T
NM_001110.3:c.416C>T	NP_001101.1:p.Pro139Leu
XM_005254117.2:c.416C>T	XP_005254174.1:p.Pro139Leu
NM_001320570.1:c.416C>T	NP_001307499.1:p.Pro139Leu
XM_024449818.1:c.194C>T	XP_024305586.1:p.Pro65Leu
NM_001110.4:c.416C>T MANE Select	NP_001101.1:p.Pro139Leu
NM_001320570.2:c.416C>T	NP_001307499.1:p.Pro139Leu