Canonical Allele Identifier: CA275484236

Gene: ADAMTS17

Linked Data

• dbSNP Id: rs957205433
• gnomAD v4: 15-99973155-C-A
• MyVariant Identifiers: chr15:g.100513360C>A (hg19) ; chr15:g.99973155C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.99973155C>A , CM000677.2:g.99973155C>A	GRCh38
NC_000015.9:g.100513360C>A , CM000677.1:g.100513360C>A	GRCh37
NC_000015.8:g.98330883C>A	NCBI36
NG_016287.1:g.373824G>T
NG_016287.2:g.373824G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268070.9:c.*1247G>T MANE Select	ENSP00000268070.4:n.*1247G>T
ENST00000268070.8:c.*1247G>T	ENSP00000268070.4:n.*1247G>T
ENST00000557896.1:n.1546G>T
NM_139057.2:c.*1247G>T	NP_620688.2:n.*1247G>T
XM_005254872.2:c.*1247G>T	XP_005254929.1:n.*1247G>T
XM_011521312.1:c.*1247G>T	XP_011519614.1:n.*1247G>T
XR_429624.2:n.1743+422C>A
NM_139057.3:c.*1247G>T	NP_620688.2:n.*1247G>T
XM_005254872.3:c.*1247G>T	XP_005254929.1:n.*1247G>T
XM_011521312.2:c.*1247G>T	XP_011519614.1:n.*1247G>T
XM_017021973.2:c.*1247G>T	XP_016877462.1:n.*1247G>T
XM_017021975.1:c.*1247G>T	XP_016877464.1:n.*1247G>T
XM_017021976.1:c.*1247G>T	XP_016877465.1:n.*1247G>T
XM_017021978.1:c.*1247G>T	XP_016877467.1:n.*1247G>T
XM_017021979.1:c.*1247G>T	XP_016877468.1:n.*1247G>T
XM_017021980.1:c.*1247G>T	XP_016877469.1:n.*1247G>T
XM_017021982.1:c.*1247G>T	XP_016877471.1:n.*1247G>T
XM_017021983.1:c.*1247G>T	XP_016877472.1:n.*1247G>T
NM_139057.4:c.*1247G>T MANE Select	NP_620688.2:n.*1247G>T