Canonical Allele Identifier: CA175205678

Gene: ADAM9

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.39017407T>C , CM000670.2:g.39017407T>C	GRCh38
NC_000008.10:g.38874926T>C , CM000670.1:g.38874926T>C	GRCh37
NC_000008.9:g.38994083T>C	NCBI36
NG_016335.1:g.25422T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000481058.2:n.749T>C
ENST00000487273.7:c.599T>C MANE Select	ENSP00000419446.2:p.Leu200Pro
ENST00000676489.1:n.1712T>C
ENST00000676617.1:c.599T>C	ENSP00000504583.1:p.Leu200Pro
ENST00000676643.1:c.599T>C	ENSP00000503079.1:p.Leu200Pro
ENST00000676669.1:c.599T>C	ENSP00000503215.1:p.Leu200Pro
ENST00000676765.1:c.599T>C	ENSP00000503374.1:p.Leu200Pro
ENST00000676919.1:n.1720T>C
ENST00000676936.1:c.599T>C	ENSP00000504471.1:p.Leu200Pro
ENST00000677004.1:c.599T>C	ENSP00000503932.1:p.Leu200Pro
ENST00000677137.1:c.599T>C	ENSP00000502895.1:p.Leu200Pro
ENST00000677165.1:c.599T>C	ENSP00000502865.1:p.Leu200Pro
ENST00000677359.1:c.599T>C	ENSP00000504373.1:p.Leu200Pro
ENST00000677582.1:c.599T>C	ENSP00000503648.1:p.Leu200Pro
ENST00000677908.1:c.599T>C	ENSP00000504640.1:p.Leu200Pro
ENST00000678253.1:c.*330T>C	ENSP00000503454.1:n.*330T>C
ENST00000678474.1:c.599T>C	ENSP00000503418.1:p.Leu200Pro
ENST00000678540.1:c.599T>C	ENSP00000503206.1:p.Leu200Pro
ENST00000678730.1:c.*330T>C	ENSP00000503523.1:n.*330T>C
ENST00000679268.1:c.599T>C	ENSP00000503584.1:p.Leu200Pro
ENST00000379917.7:c.599T>C	ENSP00000369249.3:p.Leu200Pro
ENST00000468065.5:c.599T>C	ENSP00000418737.1:p.Leu200Pro
ENST00000481058.1:n.372T>C
ENST00000481873.7:c.599T>C	ENSP00000418437.3:p.Leu200Pro
ENST00000487273.6:c.599T>C	ENSP00000419446.2:p.Leu200Pro
NM_003816.2:c.599T>C	NP_003807.1:p.Leu200Pro
NR_027638.1:n.677T>C
NR_027639.1:n.677T>C
NR_027878.1:n.677T>C
XM_011544682.1:c.545T>C	XP_011542984.1:p.Leu182Pro
XR_949497.1:n.698T>C
XM_011544682.2:c.545T>C	XP_011542984.1:p.Leu182Pro
XM_017013942.1:c.605T>C	XP_016869431.1:p.Leu202Pro
XR_001745615.1:n.620T>C
XR_001745616.2:n.896T>C
XR_001745617.1:n.5056T>C
XR_001745618.2:n.896T>C
NM_003816.3:c.599T>C MANE Select	NP_003807.1:p.Leu200Pro
NR_027638.2:n.690T>C
NR_027639.2:n.690T>C
NR_027878.2:n.690T>C