Canonical Allele Identifier: CA393692398

Gene: ADAMTS17

Linked Data

• MyVariant Identifiers: chr15:g.100589107G>A (hg19) ; chr15:g.100048902G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.100048902G>A , CM000677.2:g.100048902G>A	GRCh38
NC_000015.9:g.100589107G>A , CM000677.1:g.100589107G>A	GRCh37
NC_000015.8:g.98406630G>A	NCBI36
NG_016287.1:g.298077C>T
NG_016287.2:g.298077C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000268070.9:c.2546C>T MANE Select	ENSP00000268070.4:p.Pro849Leu
ENST00000568565.2:c.2627C>T	ENSP00000456161.2:p.Pro876Leu
ENST00000268070.8:c.2546C>T	ENSP00000268070.4:p.Pro849Leu
NM_139057.2:c.2546C>T	NP_620688.2:p.Pro849Leu
XM_005254872.2:c.2627C>T	XP_005254929.1:p.Pro876Leu
XM_011521312.1:c.2696C>T	XP_011519614.1:p.Pro899Leu
NM_139057.3:c.2546C>T	NP_620688.2:p.Pro849Leu
XM_005254872.3:c.2627C>T	XP_005254929.1:p.Pro876Leu
XM_011521312.2:c.2696C>T	XP_011519614.1:p.Pro899Leu
XM_017021973.2:c.2828C>T	XP_016877462.1:p.Pro943Leu
XM_017021974.1:c.2828C>T	XP_016877463.1:p.Pro943Leu
XM_017021975.1:c.2759C>T	XP_016877464.1:p.Pro920Leu
XM_017021976.1:c.2099C>T	XP_016877465.1:p.Pro700Leu
XM_017021978.1:c.1730C>T	XP_016877467.1:p.Pro577Leu
XM_017021979.1:c.1508C>T	XP_016877468.1:p.Pro503Leu
XM_017021980.1:c.1508C>T	XP_016877469.1:p.Pro503Leu
XM_017021982.1:c.1217C>T	XP_016877471.1:p.Pro406Leu
XM_017021983.1:c.1001C>T	XP_016877472.1:p.Pro334Leu
NM_139057.4:c.2546C>T MANE Select	NP_620688.2:p.Pro849Leu